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Sample records for symbion americanus genetic

  1. Cryptic speciation in the recently discovered American cycliophoran Symbion americanus; genetic structure and population expansion

    DEFF Research Database (Denmark)

    Baker, J.M.; Funch, Peter; Giribet, G.

    2007-01-01

      Symbion americanus was recently described as the second species in the phylum Cycliophora, living commensally on the American commercial lobster Homarus americanus. A previous genetic analysis of American and European populations of cycliophorans suggested that haplotype divergence in S....... americanus was much greater than in its European counterpart S. pandora. This study examined the population structure and demographics of 169 individuals thought to belong to S. americanus collected from lobsters over 13 North American localities (Nova Scotia, Canada to Maryland, USA) between October 2003...... and January 2006. Cytochrome c oxidase subunit I sequence data clearly suggested the presence of three cryptic lineages in a species complex, often co-occurring in the same lobster specimens. One of these lineages, named the "G" lineage, was represented by very few individuals and therefore was excluded from...

  2. Three-dimensional reconstruction of the musculature of various life cycle stages of the cycliophoran Symbion americanus

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    Cardoso Neves, Ricardo; Kristensen, Reinhardt Møbjerg; Wanninger, Andreas Wilhelm Georg

    2009-01-01

    Cycliophora is a very recently described phylum of acoelomate metazoans with a complex life cycle and a phylogenetic position that has been under debate ever since its discovery in 1995. Symbion americanus, which lives attached to the mouthparts of the American lobster, Homarus americanus...

  3. External morphology of the cycliophoran dwarf male: a comparative study of Symbion pandora and S. americanus

    DEFF Research Database (Denmark)

    Neves, Ricardo C.; Cunha, Marina R.; Funch, Peter

    2010-01-01

    the phylum was first described, the dwarf male has a remarkably complex bodyplan albeit its very small size (approx. 30–40 lm in length). Aiming to increase the knowledge on the gross morphology of the cycliophoran dwarf male, specimens from S. pandora and S. americanus were analyzed by scanning electron...... with the data currently available on other metazoan dwarf males....

  4. Summary of the clinical use of the Symbion total artificial heart: a registry report.

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    Johnson, K E; Prieto, M; Joyce, L D; Pritzker, M; Emery, R W

    1992-01-01

    Several models of total artificial hearts have been used for transient or permanent circulatory support in patients with decompensation. The most successful and widely used device, however, has been the Symbion total artificial heart. From Dec. 12, 1982, to Jan. 1, 1991, 180 Symbion total artificial hearts were implanted in 176 patients in 28 centers. Five patients received a Symbion total artificial heart as a permanent circulatory support device, whereas 171 patients received the device as a bridge to heart transplantation. Of the 175 bridge devices (171 patients) 141 were Symbion J7-70 hearts and 34 were Symbion J7-100 hearts. Four patients received two total artificial hearts, the second one after the failure of a transplanted heart because of either rejection (two patients) or donor heart failure (2 patients). Most of the recipients were males (152). The age was 42 +/- 12 years (mean +/- SD) with a weight of 74 +/- 14 kg. The most common indications for implantation included deterioration while awaiting heart transplant (36%) and acute cardiogenic shock (32%). The cause of heart disease was primarily ischemic (52%) and idiopathic (35%) cardiomyopathy. Duration of implantation ranged from 0 to 603 days (mean 25 +/- 64 days). One hundred three (60%) patients had the device less than 2 weeks, 37 (22%) between 2 to 4 weeks and 31 (18%) more than 4 weeks. Complications during implantation included infection (37%), thromboembolic events (stroke 7%, transient ischemic attack 4%), kidney failure requiring dialysis (20%), bleeding requiring intervention (26%), and device malfunction (4%). Of the 171 patients, 118 (69%) underwent orthotopic heart transplantation. Actuarial survival for all patients with implants was 62% for 30 days and 42% for 1 year, and for patients with transplants was 72% for 30 days and 57% for 1 year. The main causes of death were sepsis (33%), multiorgan failure (21%), and posttransplant rejection (10%). The results indicate a relative success of

  5. Temporal dynamics of genetic variability in a mountain goat (Oreamnos americanus) population.

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    Ortego, Joaquín; Yannic, Glenn; Shafer, Aaron B A; Mainguy, Julien; Festa-Bianchet, Marco; Coltman, David W; Côté, Steeve D

    2011-04-01

    The association between population dynamics and genetic variability is of fundamental importance for both evolutionary and conservation biology. We combined long-term population monitoring and molecular genetic data from 123 offspring and their parents at 28 microsatellite loci to investigate changes in genetic diversity over 14 cohorts in a small and relatively isolated population of mountain goats (Oreamnos americanus) during a period of demographic increase. Offspring heterozygosity decreased while parental genetic similarity and inbreeding coefficients (F(IS) ) increased over the study period (1995-2008). Immigrants introduced three novel alleles into the population and matings between residents and immigrants produced more heterozygous offspring than local crosses, suggesting that immigration can increase population genetic variability. The population experienced genetic drift over the study period, reflected by a reduced allelic richness over time and an 'isolation-by-time' pattern of genetic structure. The temporal decline of individual genetic diversity despite increasing population size probably resulted from a combination of genetic drift due to small effective population size, inbreeding and insufficient counterbalancing by immigration. This study highlights the importance of long-term genetic monitoring to understand how demographic processes influence temporal changes of genetic diversity in long-lived organisms. © 2011 Blackwell Publishing Ltd.

  6. Immunocytochemistry of the nervous system and the musculature of the chordoid larva of Symbion pandora (Cycliophora)

    DEFF Research Database (Denmark)

    Wanninger, Andreas

    2005-01-01

    To date, the phylum Cycliophora comprises only one described extant species of acoelomate marine invertebrates, Symbion pandora. Adult specimens live commensally on the mouthparts of the Norwegian lobster, Nephrops norvegicus. Its complicated life cycle includes an asexually produced Pandora larva...

  7. Isolation and characterization of new genetic types of toxoplasma gondii and prevalence of trichinella murrelli from black bear (Ursus americanus)

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    Black bears (Ursus americanus) are hosts for two important zoonotic parasites, Toxoplasma gondii and Trichinella spp. and bears are hunted for human consumption in the USA. Little is known of the genetic diversity of T. gondii circulating in wildlife. In the present study, antibodies to T. gondii we...

  8. Determining causes of genetic isolation in a large carnivore (Ursus americanus population to direct contemporary conservation measures.

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    Agnès Pelletier

    Full Text Available The processes leading to genetic isolation influence a population's local extinction risk, and should thus be identified before conservation actions are implemented. Natural or human-induced circumstances can result in historical or contemporary barriers to gene flow and/or demographic bottlenecks. Distinguishing between these hypotheses can be achieved by comparing genetic diversity and differentiation in isolated vs. continuous neighboring populations. In Ontario, American black bears (Ursus americanus are continuously distributed, genetically diverse, and exhibit an isolation-by-distance structuring pattern, except on the Bruce Peninsula (BP. To identify the processes that led to the genetic isolation of BP black bears, we modelled various levels of historical and contemporary migration and population size reductions using forward simulations. We compared simulation results with empirical genetic indices from Ontario black bear populations under different levels of geographic isolation, and conducted additional simulations to determine if translocations could help achieve genetic restoration. From a genetic standpoint, conservation concerns for BP black bears are warranted because our results show that: i a recent demographic bottleneck associated with recently reduced migration best explains the low genetic diversity on the BP; and ii under sustained isolation, BP black bears could lose between 70% and 80% of their rare alleles within 100 years. Although restoring migration corridors would be the most effective method to enhance long-term genetic diversity and prevent inbreeding, it is unrealistic to expect connectivity to be re-established. Current levels of genetic diversity could be maintained by successfully translocating 10 bears onto the peninsula every 5 years. Such regular translocations may be more practical than landscape restoration, because areas connecting the peninsula to nearby mainland black bear populations have been

  9. Population viability and connectivity of the Louisiana black bear (Ursus americanus luteolus)

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    Laufenberg, Jared S.; Clark, Joseph D.

    2014-01-01

    In 1992, the U.S. Fish and Wildlife Service (USFWS) granted Ursus americanus luteolus (Louisiana black bear) threatened status under the U.S. Endangered Species Act of 1973, listing loss and fragmentation of habitat as the primary threats. A study was developed by the U.S. Geological Survey in cooperation with the University of Tennessee, the Louisiana Department of Wildlife and Fisheries, and the USFWS to estimate demographic rates and genetic structure of Louisiana black bear populations; evaluate relations between environmental and anthropogenic factors and demographic, genetic, and movement characteristics of Louisiana black bear populations; and develop data-driven stochastic population projection models to assess long-term persistence of individual subpopulations and the overall black bear population in Louisiana.

  10. Massively parallel sequencing and analysis of the Necator americanus transcriptome.

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    Cinzia Cantacessi

    2010-05-01

    Full Text Available The blood-feeding hookworm Necator americanus infects hundreds of millions of people worldwide. In order to elucidate fundamental molecular biological aspects of this hookworm, the transcriptome of the adult stage of Necator americanus was explored using next-generation sequencing and bioinformatic analyses.A total of 19,997 contigs were assembled from the sequence data; 6,771 of these contigs had known orthologues in the free-living nematode Caenorhabditis elegans, and most of them encoded proteins with WD40 repeats (10.6%, proteinase inhibitors (7.8% or calcium-binding EF-hand proteins (6.7%. Bioinformatic analyses inferred that the C. elegans homologues are involved mainly in biological pathways linked to ribosome biogenesis (70%, oxidative phosphorylation (63% and/or proteases (60%; most of these molecules were predicted to be involved in more than one biological pathway. Comparative analyses of the transcriptomes of N. americanus and the canine hookworm, Ancylostoma caninum, revealed qualitative and quantitative differences. For instance, proteinase inhibitors were inferred to be highly represented in the former species, whereas SCP/Tpx-1/Ag5/PR-1/Sc7 proteins ( = SCP/TAPS or Ancylostoma-secreted proteins were predominant in the latter. In N. americanus, essential molecules were predicted using a combination of orthology mapping and functional data available for C. elegans. Further analyses allowed the prioritization of 18 predicted drug targets which did not have homologues in the human host. These candidate targets were inferred to be linked to mitochondrial (e.g., processing proteins or amino acid metabolism (e.g., asparagine t-RNA synthetase.This study has provided detailed insights into the transcriptome of the adult stage of N. americanus and examines similarities and differences between this species and A. caninum. Future efforts should focus on comparative transcriptomic and proteomic investigations of the other predominant human

  11. Seroprevalence of Toxoplasma gondii from free-ranging black bears ( Ursus americanus ) from Florida.

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    Chambers, D L; Ulrey, W A; Guthrie, J M; Kwok, O C H; Cox, J J; Maehr, D S; Dubey, J P

    2012-06-01

    Toxoplasma gondii is a significant worldwide parasitic protozoan. In the present study, prevalence of antibodies of T. gondii was examined from 29 free-ranging black bears ( Ursus americanus ) from south-central Florida where the host species was listed as state threatened during this project. Overall T. gondii prevalence was found to be 44.8%, specifically 46.2% in male and 43.8% in female U. americanus , using a modified agglutination test (1:25 titer). Seroprevalence differences between sexes were not significant (P > 0.05). Results of the present study add supportive data to the growing body of evidence suggesting that U. americanus has one of the highest T. gondii seroprevalences among all known intermediate hosts. In addition, our data emphasize the importance of understanding parasitic disease dynamics from a conservation perspective.

  12. Trypanosomes of Bufo americanus from northern Michigan.

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    Werner, J K; Davis, J S; Slaght, K S

    1988-10-01

    Two hundred one American toads (Bufo americanus) from northern Michigan were examined for blood trypanosomes. Three species, Trypanosoma bufophlebotomi, T. schmidti-like sp. and T. pseudopodia, had prevalences of 27, 16 and 1%, respectively. Cross experimental inoculations showed that T. bufophlebotomi from toads is not the same as T. ranarum found in frogs of the family Ranidae of this region.

  13. Effect of confinement and starvation on stress parameters in the American lobster (Homarus americanus

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    Edo D'Agaro

    2014-12-01

    Full Text Available The American lobster (Homarus americanus is one of the most important crustacean resources in North America. In Italy and Europe, this fishery product is available throughout the year and it has a high and increasing commercial demand. American lobsters are traditionally marketed live and stocked, without feed, in temperature controlled recirculating systems for several weeks before being sold in the market places. The current Italian legislation does not fix a maximum length of time for the crustacean confinement and specific welfare requirements. In the present research, a 4-week experiment was carried out using 42 adult H. americanus reared in 4 recirculating aquaculture tanks. After one month of confinement, mean glucose, protein and total haemocyte count levels in the hemolymph of H. americanus were stable and similar (P>0.05 to the values observed at the beginning of the experiment. Results of the proximate analysis of the abdominal muscles of H. americanus showed no significant differences in concentrations of crude protein, lipid and ash during the trial. At the end of the experiment, the sodium dodecyl sulfate-polyacrylamide gel electrophoresis and Western blotting analysis revealed a marked degradation of the muscle myofibrillar proteins. A number of fragments, possibly from myosin, were evident in the range between 50 and 220 kDa between time t0 and t28. Results of this study show that the main hemolymphatic variables and degradation analysis of the muscle myofibrillar proteins can be used as sensitive indicators of the crustacean stress response to confinement and starvation.

  14. Trichinella surveillance in black bears (Ursus americanus) from Oregon, USA.

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    Mortenson, J A; Kent, M L; Fowler, D R; Chomel, B B; Immell, D A

    2014-01-01

    We used serology and muscle digestion to test black bears (Ursus americanus) from western Oregon, USA, for Trichinella. Results indicate black bears in Oregon are not part of a sylvatic cycle for Trichinella, and risk of human exposure to Trichinella larvae from eating black bear meat from Oregon appears low.

  15. Genomovirus Genomes Recovered from Echinothrips americanus Sampled in Florida, USA

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    Kraberger, Simona; Polston, Jane E.; Capobianco, Heather M.; Alcalá-Briseño, Ricardo I.; Fontenele, Rafaela S.

    2017-01-01

    ABSTRACT Four genomovirus genomes were recovered from thrips (Echinothrips americanus) collected in Florida, USA. These represent four new species which are members of the Gemycircularvirus (n = 2), Gemyduguivirus (n = 1), and Gemykibivirus (n = 1) genera. This is the first record, to our knowledge, of genomoviruses associated with a phytophagous insect. PMID:28546499

  16. Phylogeographic Analyses of American Black Bears (Ursus americanus) Suggest Four Glacial Refugia and Complex Patterns of Postglacial Admixture.

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    Puckett, Emily E; Etter, Paul D; Johnson, Eric A; Eggert, Lori S

    2015-09-01

    Studies of species with continental distributions continue to identify intraspecific lineages despite continuous habitat. Lineages may form due to isolation by distance, adaptation, divergence across barriers, or genetic drift following range expansion. We investigated lineage diversification and admixture within American black bears (Ursus americanus) across their range using 22 k single nucleotide polymorphisms and mitochondrial DNA sequences. We identified three subcontinental nuclear clusters which we further divided into nine geographic regions: Alaskan (Alaska-East), eastern (Central Interior Highlands, Great Lakes, Northeast, Southeast), and western (Alaska-West, West, Pacific Coast, Southwest). We estimated that the western cluster diverged 67 ka, before eastern and Alaskan divergence 31 ka; these divergence dates contrasted with those from the mitochondrial genome where clades A and B diverged 1.07 Ma, and clades A-east and A-west diverged 169 ka. We combined estimates of divergence timing with hindcast species distribution models to infer glacial refugia for the species in Beringia, Pacific Northwest, Southwest, and Southeast. Our results show a complex arrangement of admixture due to expansion out of multiple refugia. The delineation of the genomic population clusters was inconsistent with the ranges for 16 previously described subspecies. Ranges for U. a. pugnax and U. a. cinnamomum were concordant with admixed clusters, calling into question how to order taxa below the species level. Additionally, our finding that U. a. floridanus has not diverged from U. a. americanus also suggests that morphology and genetics should be reanalyzed to assess taxonomic designations relevant to the conservation management of the species. © The Author 2015. Published by Oxford University Press on behalf of the Society for Molecular Biology and Evolution. All rights reserved.For permissions please email: journals.permissions@oup.com.

  17. Isolation and Genetic Characterization of Toxoplasma gondii from Black Bears (Ursus americanus), Bobcats (Lynx rufus), and Feral Cats (Felis catus) from Pennsylvania.

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    Dubey, Jitender P; Verma, Shiv K; Calero-Bernal, Rafael; Cassinelli, Ana B; Kwok, Oliver C H; Van Why, Kyle; Su, Chunlei; Humphreys, Jan G

    2015-01-01

    Toxoplasma gondii infects virtually all warm-blooded hosts worldwide. Recently, attention has been focused on the genetic diversity of the parasite to explain its pathogenicity in different hosts. It has been hypothesized that interaction between feral and domestic cycles of T. gondii may increase unusual genotypes in domestic cats and facilitate transmission of potentially more pathogenic genotypes to humans, domestic animals, and wildlife. In the present study, we tested black bear (Ursus americanus), bobcat (Lynx rufus), and feral cat (Felis catus) from the state of Pennsylvania for T. gondii infection. Antibodies to T. gondii were found in 32 (84.2%) of 38 bears, both bobcats, and 2 of 3 feral cats tested by the modified agglutination test (cut off titer 1:25). Hearts from seropositive animals were bioassayed in mice, and viable T. gondii was isolated from 3 of 32 bears, 2 of 2 bobcats, and 2 of 3 feral cats. DNA isolated from culture-derived tachyzoites of these isolates was characterized using multilocus PCR-RFLP markers. Three genotypes were revealed, including ToxoDB PCR-RFLP genotype #1 or #3 (Type II, 1 isolate), #5 (Type 12, 3 isolates), and #216 (3 isolates), adding to the evidence of genetic diversity of T. gondii in wildlife in Pennsylvania. Pathogenicity of 3 T. gondii isolates (all #216, 1 from bear, and 2 from feral cat) was determined in outbred Swiss Webster mice; all three were virulent causing 100% mortality. Results indicated that highly mouse pathogenic strains of T. gondii are circulating in wildlife, and these strains may pose risk to infect human through consuming of game meat. Published 2014. This article is a U.S. Government work and is in the public domain in the USA.

  18. Seasonal and daily plasma corticosterone rhythms in American toads, Bufo americanus

    International Nuclear Information System (INIS)

    Pancak, M.K.; Taylor, D.H.

    1983-01-01

    Concentrations of corticosterone were measured in the plasma of American toads, Bufo americanus, on a seasonal basis using a radioimmunoassay technique. Two populations of toads, maintained under different light conditions, were monitored to observe the effects of photoperiod on the seasonal rhythm of plasma corticosterone. Under a natural photoperiod toads demonstrated a rhythm consisting of a spring peak and a fall peak in corticosterone concentration. Toads maintained under a 12L:12D photoperiod all year round demonstrated a similar rhythm with peaks in the spring and fall. This suggests that an endogenous (circannual) rhythm of corticosterone may be playing an important role in the seasonal change of overt behavior and physiology of Bufo americanus. A daily rhythm of corticosterone was also detected in toads when blood samples were taken every 4 hr. When compared to a previously published circadian rhythm study of locomotor activity, the surge in corticosterone concentration for the day occurred at 1730 just prior to the peak in locomotor activity

  19. Colonization of dodder, Cuscuta indecorans, by Ca. Liberibacter asiaticus and Ca. Liberibacter americanus

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    Huanglongbing, or citrus greening, threatens the global citrus industry. The presumptive pathogen, Candidatus Liberibacter asiaticus and Candidatus Liberibacter americanus can be transferred from citrus to more easily studied experimental hosts by using holoparasitic dodder plants. However the int...

  20. Structural characterization of recombinant crustacyanin subunits from the lobster Homarus americanus

    International Nuclear Information System (INIS)

    Ferrari, Michele; Folli, Claudia; Pincolini, Elisa; McClintock, Timothy S.; Rössle, Manfred; Berni, Rodolfo; Cianci, Michele

    2012-01-01

    The two recombinant apo subunits H1 and H2 from H. americanus have been structurally characterized. Reconstitution studies with astaxanthin reproduced the bathochromic shift of 85–95 nm typical of the natural crustacyanin subunits. Crustacean crustacyanin proteins are linked to the production and modification of carapace colour, with direct implications for fitness and survival. Here, the structural and functional properties of the two recombinant crustacyanin subunits H 1 and H 2 from the American lobster Homarus americanus are reported. The two subunits are structurally highly similar to the corresponding natural apo crustacyanin CRTC and CRTA subunits from the European lobster H. gammarus. Reconstitution studies of the recombinant crustacyanin proteins H 1 and H 2 with astaxanthin reproduced the bathochromic shift of 85–95 nm typical of the natural crustacyanin subunits from H. gammarus in complex with astaxanthin. Moreover, correlations between the presence of crustacyanin genes in crustacean species and the resulting carapace colours with the spectral properties of the subunits in complex with astaxanthin confirmed this genotype–phenotype linkage

  1. An examination of the genetic control of Douglas-fir vascular tissue phytochemicals: implications for black bear foraging.

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    Bruce A. Kimball; G.R. Johnson; Dale L. Nolte; Doreen L. Griffin

    1999-01-01

    Silvicultural practices can influence black bear (Ursus americanus) foraging preferences for Douglas-fir (Pseudotsuga menziesii) cambial-zone vascular tissues, but little is known about the role of genetics. To study the impact of genetic selection, vascular tissue samples were collected from Douglas-fir trees in six half-sib families from five...

  2. Prevalence of Anaplasma phagocytophilum in North Carolina Eastern Black Bears ( Ursus americanus ).

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    Westmoreland, Lori S H; Stoskopf, Michael K; Maggi, Ricardo G

    2016-10-01

    We detected Anaplasma phagocytophilum by DNA amplification in whole blood from free-ranging, hunter-killed American black bears ( Ursus americanus ) from the east coast of North Carolina, US. Molecular prevalence for Anaplasma phagocytophilum was 3% from 68 black bears. No DNA of other Anaplasma or Ehrlichia spp. was identified.

  3. Hookworm infection and anemia in adult women in rural Chiapas, Mexico Anemia e infección por Necator americanus en mujeres en Chiapas, México

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    Paula E. Brentlinger

    2003-04-01

    Full Text Available OBJECTIVE: To describe associations between anemia and hookworm (Necator americanus infection in hospitalized women in rural Chiapas, Mexico. MATERIAL AND METHODS: We retrospectively reviewed the hospital records of 68 anemic women (defined as having a hemoglobin level OBJETIVO: Describir la asociación entre anemia severa e infección con Necator americanus en una población de mujeres hospitalizadas en el estado de Chiapas, México. MATERIAL Y MÉTODOS: En el registro de ingresos del año 1999 de un hospital rural en Altamirano, Chiapas, se identificaron a las pacientes con diagnósticos de egreso de anemia (definida como hemoglobina<10mg/dl y/o parasitosis intestinal. También se revisó el registro de transfusiones para identificar a las mujeres mayores de 14 años de edad que recibieron sangre. La revisión de expedientes y el análisis de datos se llevó a cabo en el año 2000. Las comparaciones de las características de las pacientes se hicieron con la prueba t de Student (para variables continuas y la prueba ji2 (para variables categóricas. La significancia estadística se estableció con un valor de p< 0.01. RESULTADOS: En las mujeres en quienes se realizó examen coproscópico, 50% tuvieron N. americanus. La presencia de N. americanus no excluyó la presencia de otro factor de riesgo para anemia, por ejemplo embarazo o hemorragia. Los niveles de hemoglobina de las mujeres infectadas con N. americanus fueron significativamente más bajos (promedio 4.1 g/dl que los de las demás mujeres anémicas (promedio 7.0 gm/dl, y la prevalencia de N. americanus en mujeres anémicas fue más alta (50.0% que en la población atendida por el hospital (1.9%. CONCLUSIONES: Aunque la prevalencia de infección con N. americanus no se considera alta en la población general mexicana, fue importante en las mujeres anémicas que se sometieron a coproscopía en nuestro estudio. Las mujeres anémicas ameritan coproscopía donde existe N. americanus, y pueden

  4. Genomic analysis of expressed sequence tags in American black bear Ursus americanus

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    2010-01-01

    Background Species of the bear family (Ursidae) are important organisms for research in molecular evolution, comparative physiology and conservation biology, but relatively little genetic sequence information is available for this group. Here we report the development and analyses of the first large scale Expressed Sequence Tag (EST) resource for the American black bear (Ursus americanus). Results Comprehensive analyses of molecular functions, alternative splicing, and tissue-specific expression of 38,757 black bear EST sequences were conducted using the dog genome as a reference. We identified 18 genes, involved in functions such as lipid catabolism, cell cycle, and vesicle-mediated transport, that are showing rapid evolution in the bear lineage Three genes, Phospholamban (PLN), cysteine glycine-rich protein 3 (CSRP3) and Troponin I type 3 (TNNI3), are related to heart contraction, and defects in these genes in humans lead to heart disease. Two genes, biphenyl hydrolase-like (BPHL) and CSRP3, contain positively selected sites in bear. Global analysis of evolution rates of hibernation-related genes in bear showed that they are largely conserved and slowly evolving genes, rather than novel and fast-evolving genes. Conclusion We provide a genomic resource for an important mammalian organism and our study sheds new light on the possible functions and evolution of bear genes. PMID:20338065

  5. Genomic analysis of expressed sequence tags in American black bear Ursus americanus.

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    Zhao, Sen; Shao, Chunxuan; Goropashnaya, Anna V; Stewart, Nathan C; Xu, Yichi; Tøien, Øivind; Barnes, Brian M; Fedorov, Vadim B; Yan, Jun

    2010-03-26

    Species of the bear family (Ursidae) are important organisms for research in molecular evolution, comparative physiology and conservation biology, but relatively little genetic sequence information is available for this group. Here we report the development and analyses of the first large scale Expressed Sequence Tag (EST) resource for the American black bear (Ursus americanus). Comprehensive analyses of molecular functions, alternative splicing, and tissue-specific expression of 38,757 black bear EST sequences were conducted using the dog genome as a reference. We identified 18 genes, involved in functions such as lipid catabolism, cell cycle, and vesicle-mediated transport, that are showing rapid evolution in the bear lineage Three genes, Phospholamban (PLN), cysteine glycine-rich protein 3 (CSRP3) and Troponin I type 3 (TNNI3), are related to heart contraction, and defects in these genes in humans lead to heart disease. Two genes, biphenyl hydrolase-like (BPHL) and CSRP3, contain positively selected sites in bear. Global analysis of evolution rates of hibernation-related genes in bear showed that they are largely conserved and slowly evolving genes, rather than novel and fast-evolving genes. We provide a genomic resource for an important mammalian organism and our study sheds new light on the possible functions and evolution of bear genes.

  6. Genetic Characterization of Sarcoptes scabiei from Black Bears (Ursus americanus) and Other Hosts in the Eastern United States.

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    Peltier, Sarah K; Brown, Justin D; Ternent, Mark; Niedringhaus, Kevin D; Schuler, Krysten; Bunting, Elizabeth M; Kirchgessner, Megan; Yabsley, Michael J

    2017-10-01

    Since the early 1990s there has been an increase in the number of cases and geographic expansion of severe mange in the black bear (Ursus americanus) population in Pennsylvania. Although there are 3 species of mites associated with mange in bears, Sarcoptes scabiei has been identified as the etiologic agent in these Pennsylvania cases. Historically, S. scabiei-associated mange in bears has been uncommon and sporadic, although it is widespread and relatively common in canid populations. To better understand this recent emergence of sarcoptic mange in bears in Pennsylvania and nearby states, we genetically characterized S. scabiei samples from black bears in the eastern United States. These sequences were compared with newly acquired S. scabiei sequences from wild canids (red fox [Vulpes vulpes] and coyote [Canis latrans]) and a porcupine (Erethizon dorsatum) from Pennsylvania and Kentucky and also existing sequences in GenBank. The internal transcribed spacer (ITS)-2 region and cytochrome c oxidase subunit 1 (cox1) gene were amplified and sequenced. Twenty-four ITS-2 sequences were obtained from mites from bears (n = 16), red fox (n = 5), coyote (n = 2), and a porcupine. The sequences from bear samples were identical to each other or differed only at polymorphic bases, whereas S. scabiei from canids were more variable, but 2 were identical to S. scabiei sequences from bears. Eighteen cox1 sequences obtained from mites from bears represented 6 novel haplotypes. Phylogenetic analysis of cox1 sequences revealed 4 clades: 2 clades of mites of human origin from Panama or Australia, a clade of mites from rabbits from China, and a large unresolved clade that included the remaining S. scabiei sequences from various hosts and regions, including sequences from the bears from the current study. Although the cox1 gene was more variable than the ITS-2, phylogenetic analyses failed to detect any clustering of S. scabiei from eastern U.S. hosts. Rather, sequences from black bears

  7. Population structure and reproduction of Menticirrhus americanus (Linnaeus, 1758 (Teleostei, Sciaenidae in Ubatuba-Enseada Bay, Santa Catarina, Brazil

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    Carolina Ferreira Haluch

    2011-02-01

    Full Text Available Population structure and reproductive aspects of the southern kingfish Menticirrhus americanus in Santa Catarina northern coast were investigated. Trawl nets were used for the monthly surveys between October (2003 and September (2004. A total of 425 individuals between 4.2 and 31.8cm (mean 12.7 ± 5.7 were analyzed, and the majority of the individuals (4.2 to12.5cm was captured mainly in summer, autumn and winter, while larger individuals were captured in spring. Females of all size classes were predominant during summer and winter, and weight/length relationship showed significant differences between sexes and a positive alometric growth for the species. The size at first maturity (L50 was estimated in 16.7cm for females and 15.4cm for males. The reproductive period occurred in warm seasons, and M. americanus showed multiple spawning. The hepatossomatic index demonstrated a similar seasonal pattern as the gonadosomatic index, and was a good indicator of the spawning. The condition factor wasn’t a good indicator of the spawning period, but it was related with the recovery process and gonad maturation. Characteristics of the population dynamic showed that M. americanus utilizes the study area for reproduction and recruitment.

  8. Seroprevalence of Toxoplasma gondii in American Black Bears ( Ursus americanus ) of the Central Appalachians, USA.

    Science.gov (United States)

    Cox, John J; Murphy, Sean M; Augustine, Ben C; Guthrie, Joseph M; Hast, John T; Maehr, Sutton C; McDermott, Joseph

    2017-07-01

    We assessed Toxoplasma gondii seroprevalence in 53 free-ranging American black bears ( Ursus americanus ) in the Central Appalachian Mountains, US. Seroprevalence was 62% with no difference between males and females or between juvenile and adult bears. Wildlife agencies should consider warnings in hunter education programs to reduce the chances for human infection from this source.

  9. Arterial supply and venous drainage of the brain of the black bear (Ursus americanus). II.Intracranial microvasculature

    NARCIS (Netherlands)

    Anderson, B.G.; Anderson, W.D.; Seguin, R.J.

    1989-01-01

    A morphological study of the intracranial microvasculature of the Black bear (Ursus americanus) using vascular casts was undertaken. The object was to provide basic information regarding structural modifications of the microvasculature that might provide insight into the ability to cope with low

  10. First report of Taenia arctos (Cestoda: Taeniidae) from grizzly (Ursus arctos horribilis) and black bears (Ursus americanus) in North America.

    Science.gov (United States)

    Catalano, Stefano; Lejeune, Manigandan; Verocai, Guilherme G; Duignan, Pádraig J

    2014-04-01

    The cestode Taenia arctos was found at necropsy in the small intestine of a grizzly (Ursus arctos horribilis) and a black bear (Ursus americanus) from Kananaskis Country in southwestern Alberta, Canada. The autolysis of the tapeworm specimens precluded detailed morphological characterization of the parasites but molecular analysis based on mitochondrial DNA cytochrome c oxidase subunit 1 gene confirmed their identity as T. arctos. This is the first report of T. arctos from definitive hosts in North America. Its detection in Canadian grizzly and black bears further supports the Holarctic distribution of this tapeworm species and its specificity for ursids as final hosts. Previously, T. arctos was unambiguously described at its adult stage in brown bears (Ursus arctos arctos) from Finland, and as larval stages in Eurasian elk (Alces alces) from Finland and moose (Alces americanus) from Alaska, USA. Given the morphological similarity between T. arctos and other Taenia species, the present study underlines the potential for misidentification of tapeworm taxa in previous parasitological reports from bears and moose across North America. The biogeographical history of both definitive and intermediate hosts in the Holarctic suggests an ancient interaction between U. arctos, Alces spp., and T. arctos, and a relatively recent host-switching event in U. americanus. Copyright © 2013 Elsevier Ireland Ltd. All rights reserved.

  11. Trichinella Surveillance in Black Bears ( Ursus americanus ) from the Dehcho Region, Northwest Territories, Canada, 2002-15.

    Science.gov (United States)

    Larter, Nicholas C; Elkin, Brett T; Forbes, Lorry B; Wagner, Brent; Allaire, Danny G

    2017-04-01

    We used muscle digestion to test black bears ( Ursus americanus ) from the southwestern Northwest Territories, Canada, for Trichinella. Results showed a prevalence of 4.1%. Some bears had infection intensities of more than one larva per gram of muscle tissue; this level in meat is considered to pose a human consumption safety risk.

  12. Citrus huanglongbing: validation of Real-Time PCR (qPCR for the detection of Candidatus Liberibacter asiaticus and Candidatus Liberibacter americanus in Colombia

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    Jorge Evelio Ángel

    2014-12-01

    Full Text Available Citrus huanglongbing (HLB is the most destructive citrus disease. Two of the three known HLB-associated Candidatus Liberibacter species were recently found to be present in the Americas. In this study, eggs, nymphs and adults of Diaphorina citri Kuwayama (Hemiptera: Liviidae and suspect citrus plant materials were collected in 25 municipalities in the departments of Cundinamarca, Santander, Valle del Cauca, Meta and Quindio (Colombia. The detection sensitivity, specificity and assay performance of the 16S rDNA-based real-time PCR (qPCR were validated for the field survey of the disease in Colombia. The validation confirmed the reliability and robustness of the real-time PCR method for the detection of HLB bacteria in host citrus plant tissues and the vector D. citri. The diagnosis was performed for Candidatus Liberibacter asiaticus (Ca. L. asiaticus and for Candidatus Liberibacter americanus (Ca. L. americanus on 168 citrus plant material samples and 239 insect samples. Neither Ca. L. asiaticus nor Ca. L. americanus were detected in the host plants or insects vector, confirming the absence of the disease in the citrus-producing areas of Colombia.

  13. Biomarker analysis of American toad (Anaxyrus americanus) and grey tree frog (Hyla versicolor) tadpoles following exposure to atrazine.

    Science.gov (United States)

    The objective of the current study was to use a biomarker-based approach to investigate the influence of atrazine exposure on American toad (Anaxyrus americanus) and grey tree frog (Hyla versicolor) tadpoles. Atrazine is one of the most frequently detected herbicides in environme...

  14. Influence of drift and admixture on population structure of American black bears (Ursus americanus) in the Central Interior Highlands, USA, 50 years after translocation.

    Science.gov (United States)

    Puckett, Emily E; Kristensen, Thea V; Wilton, Clay M; Lyda, Sara B; Noyce, Karen V; Holahan, Paula M; Leslie, David M; Beringer, Jeff; Belant, Jerrold L; White, Don; Eggert, Lori S

    2014-05-01

    Bottlenecks, founder events, and genetic drift often result in decreased genetic diversity and increased population differentiation. These events may follow abundance declines due to natural or anthropogenic perturbations, where translocations may be an effective conservation strategy to increase population size. American black bears (Ursus americanus) were nearly extirpated from the Central Interior Highlands, USA by 1920. In an effort to restore bears, 254 individuals were translocated from Minnesota, USA, and Manitoba, Canada, into the Ouachita and Ozark Mountains from 1958 to 1968. Using 15 microsatellites and mitochondrial haplotypes, we observed contemporary genetic diversity and differentiation between the source and supplemented populations. We inferred four genetic clusters: Source, Ouachitas, Ozarks, and a cluster in Missouri where no individuals were translocated. Coalescent models using approximate Bayesian computation identified an admixture model as having the highest posterior probability (0.942) over models where the translocation was unsuccessful or acted as a founder event. Nuclear genetic diversity was highest in the source (AR = 9.11) and significantly lower in the translocated populations (AR = 7.07-7.34; P = 0.004). The Missouri cluster had the lowest genetic diversity (AR = 5.48) and served as a natural experiment showing the utility of translocations to increase genetic diversity following demographic bottlenecks. Differentiation was greater between the two admixed populations than either compared to the source, suggesting that genetic drift acted strongly over the eight generations since the translocation. The Ouachitas and Missouri were previously hypothesized to be remnant lineages. We observed a pretranslocation remnant signature in Missouri but not in the Ouachitas. Published 2014. This article is a U.S. Government work and is in the public domain in the USA.

  15. Tetranucleotide microsatellite loci from the black bear (Ursus americanus)

    Science.gov (United States)

    Sanderlin, J.S.; Faircloth, B.C.; Shamblin, B.; Conroy, M.J.

    2009-01-01

    We describe primers and polymerase chain reaction conditions to amplify 21 tetranucleotide microsatellite DNA loci in black bears (Ursus americanus). We tested primers using individuals from two populations, one each in Georgia and Florida. Among individuals from Georgia (n = 29), primer pairs yielded an average of 2.9 alleles (range, one to four) and an average observed heterozygosity (HO) of 0.50 (range, 0.00 to 0.79). Among individuals from Florida (n = 19), primer pairs yielded an average of 5.7 alleles (range, one to 14) and an HO of 0.55 (range, 0.00 to 1.00). A comparison of previously developed markers with individuals from Georgia suggests that bear populations in Georgia and Florida have reduced allelic diversity relative to other populations. ?? 2008 The Authors.

  16. Arterial supply and venous drainage of the brain of the black bear (Ursus americanus). I.Gross anatomical distribution

    NARCIS (Netherlands)

    Anderson, W.D.; Anderson, B.G.; Seguin, R.J.

    1989-01-01

    A morphological study of the intracranial vessels of the Black bear (Ursus americanus) was undertaken. The object was to provide basic information related to the vascular pattern in these animals as compared with other carnivores and with the human. Vascular casts were prepared from 6 animals. The

  17. Occurrence of Larvae and Juveniles of Eucinostomus argenteus, Eucinostomus gula, Menticirrhus americanus, Menticirrhus littoralis, Umbrina coroides and Micropogonias furnieri at Pontal do Sul beach, Paraná

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    Rodrigo Santiago Godefroid

    2001-12-01

    Full Text Available Despite its importance, most ichthyoplankton studies in the South-Southeastern coast of Brazil, have been accomplished on the continental shelf. Regarding the beach environment, recognized as a nursery, little is known about the ichthyoplankton. We analyzed 288 samples collected with a 18 by 2 m seine net, 1 mm mesh and a conical plankton net, with a mesh of 300 mum and a 60 cm mouth. Eucinostomus argenteus comprised 78 % of the larvae and juveniles caught in the samples. The occurrence of gerreids was strongly concentrated in the summer, while the Menticirrhus littoralis, Menticirrhus americanus and Umbrina coroides were present during all seasons. M.littoralis was most abundant during spring, while M. americanus and U. coroides dominated during winter. For all species, the largest captures occurred during low tide. Environmental preferences are indicated in the principal component analysis, with the larvae and juveniles of E. argenteus and E. gula positively correlated with smaller waves and smaller morphodynamism, whereas M. americanus, U. coroides and M. furnieri seem to prefer periods with lower temperatures and larger morphodynamism.Apesar da importância, a maioria dos estudos de ictioplâncton na costa sul-sudeste do Brasil, foram realizados sobre a plataforma continental. No que se refere ao ambiente praial, reconhecido como área de criação, pouco se sabe sobre o ictioplâncton. Foram analisadas 288 amostras coletadas com uma rede tipo picaré com 18 x 2 m e malha de 1mm, e rede de plancton cônica, com malha de 300 mim e boca de 60 cm. A espécie E. argenteus totalizou 78 % das larvas e juvenis capturados. A ocorrência dos gerreideos foi fortemente concentrada no verão, enquanto que Menticirrhus littoralis, Menticirrhus americanus e Umbrina coroides estiveram presentes em todas as estações do ano. M. littoralis foi mais abundante na primavera, enquanto que M. americanus e U. coroides dominaram no inverno. Em todas as esp

  18. Combined use of mark-recapture and genetic analyses reveals response of a black bear population to changes in food productivity

    Science.gov (United States)

    Barbara S. McCall; Michael S. Mitchell; Michael K. Schwartz; Jim Hayden; Samuel A. Cushman; Pete Zager; Wayne F. Kasworm

    2013-01-01

    We used mark-recapture analysis to investigate the dynamics of a black bear (Ursus americanus) population in northern Idaho where food availability varies seasonally and annually. We conducted noninvasive genetic sampling (NGS) during 2003-2006 in the Purcell Mountains of Idaho to collect black bear DNA samples for individual identification of bears. We used a...

  19. Social network analysis of mating patterns in American black bears (Ursus americanus).

    Science.gov (United States)

    Moore, Jennifer A; Xu, Ran; Frank, Kenneth; Draheim, Hope; Scribner, Kim T

    2015-08-01

    Nonrandom mating can structure populations and has important implications for population-level processes. Investigating how and why mating deviates from random is important for understanding evolutionary processes as well as informing conservation and management. Prior to the implementation of parentage analyses, understanding mating patterns in solitary, elusive species like bears was virtually impossible. Here, we capitalize on a long-term genetic data set collected from black bears (Ursus americanus) (N = 2422) in the Northern Lower Peninsula (NLP) of Michigan, USA. We identified mated pairs using parentage analysis and applied logistic regression (selection) models that controlled for features of the social network, to quantify the effects of individual characteristics, and spatial and population demographic factors on mating dynamics. Logistic regression models revealed that black bear mating was associated with spatial proximity of mates, male age, the time a pair had coexisted, local population density and relatedness. Mated pairs were more likely to contain older males. On average, bears tended to mate with nearby individuals to whom they were related, which does not support the existence of kin recognition in black bears. Pairwise relatedness was especially high for mated pairs containing young males. Restricted dispersal and high male turnover from intensive harvest mortality of NLP black bears are probably the underlying factors associated with younger male bears mating more often with female relatives. Our findings illustrate how harvest has the potential to disrupt the social structure of game species, which warrants further attention for conservation and management. © 2015 John Wiley & Sons Ltd.

  20. HYDROCEPHALUS IN THREE JUVENILE NORTH AMERICAN BLACK BEARS (URSUS AMERICANUS).

    Science.gov (United States)

    Ferguson, Sylvia H; Novak, Janelle; Hecht, Silke; Craig, Linden E

    2016-06-01

    Hydrocephalus has been reported in a variety of species, including the North American black bear ( Ursus americanus ). This report describes three cases of hydrocephalus in this species from wild bears aged 3-4 mo considered retrospectively from necropsy records of one institution. Clinical signs included cortical blindness and ataxia. Primary gross findings were doming of the skull, gyri compression and flattening, and lateral ventricle dilation. Two cases had severe bilateral ventricular dilation with loss of the septum pellucidum; atrophy of the surrounding corpus callosum; and bilateral periventricular tears involving the caudate nuclei, internal capsule, and adjacent cerebrum. Histologically, the cases with periventricular tearing had severe axonal loss and degeneration, malacia, hemorrhage, and variable periventricular astrocytosis. All cases were likely congenital, given the bears' age and lack of an apparent acquired obstruction.

  1. Population biology and diet of the southern kingcroaker Menticirrhus americanus (Linnaeus, 1758 (Perciformes: Sciaenidae in Caraguatatuba Bay, southeastern Brazil

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    Alexander Turra

    2012-09-01

    Full Text Available This study evaluated the spatio-temporal distribution, population biology and diet of Menticirrhus americanus in Caraguatatuba Bay. Samples were taken monthly between August 2003 and October 2004, by trawling in two previously selected areas. The northern area is more exposed to wave activity and is influenced by a river, functioning as a small estuary. In contrast, the southern area is relatively sheltered from wave energy and influenced to a lesser degree by smaller rivers. The fishes' length was measured, and the sex and gonadal stage macroscopically identified. The abundance of this species was compared between areas and among months. The diet was identified and quantified. M. americanus occurred in equal proportions in the two study areas, being most abundant in April 2004, followed by December 2003 and January 2004. The population was dominated by small immature individuals. The few individuals in maturation or mature that were captured showed no seasonal pattern of distribution. This species had a varied diet, feeding on worms (nemerteans, sipunculans and echiurans, mollusks (bivalves and cephalopods, polychaetes, crustaceans and fish. The presence of intact nematodes in the intestine suggests that these are parasites. The results demonstrated that M. americanus has a homogeneous spatial and temporal distribution in Caraguatatuba Bay, being uniformly distributed between the south and north areas as well as across the months. This species can be considered a carnivorous predator, showing a preference for consuming benthic sandy-beach species such as glycerids and other polychaetes, crustaceans, and bivalve siphons.Este estudo teve como objetivo avaliar a distribuição espaço-temporal, biologia populacional e dieta de Menticirrhus americanus da baía de Caraguatatuba. Foram realizadas coletas mensais entre agosto de 2003 a outubro de 2004, utilizando redes de arrasto em duas áreas previamente selecionadas. A área norte é mais expostas

  2. Implications of Future Northwest Atlantic Bottom Temperatures on the American Lobster (Homarus americanus) Fishery

    Science.gov (United States)

    Rheuban, Jennie E.; Kavanaugh, Maria T.; Doney, Scott C.

    2017-12-01

    Sea surface temperatures of the northwest Atlantic have warmed dramatically over the last several decades, while benthic temperatures have increased at a slower pace. Here we analyze a subset of the CMIP5 global Earth system model ensemble using a statistical downscaling approach to determine potential future changes in benthic temperatures on the northwest Atlantic continental shelf and slope (business-as-usual (RCP8.5) and a climate-policy (RCP4.5) scenario are projected to increase by 0-1.5°C and 1.2-2.4°C by 2050 and 0-1.9°C and 2.3-4.3°C by the end of the century for RCP4.5 and RCP8.5, respectively. H. americanus experiences thermal stress at temperatures above 20°C, and projected increases in temperature is likely to result in changes in the distribution of optimal thermal egg hatching and settlement indicators. Inshore regions of southern New England, where H. americanus biomass and catch have been declining historically, will likely become inhospitable under either future scenario, while thermal egg hatching and settlement indicators will expand offshore and in the Gulf of Maine. These changes imply that members of the fishery based in southern New England may need to recapitalize to larger vessels to prepare for potential changes brought on by future climate warming. Results from the downscaling presented here can be useful in preparing for potential changes to other fisheries or in future climate vulnerability analyses.

  3. Chemosensitivity of walking legs of the lobster Homarus americanus: neurophysiological response spectrum and thresholds

    Energy Technology Data Exchange (ETDEWEB)

    Derby, C D; Atema, J

    1982-01-01

    Responses of chemoreceptors in the walking legs of the lobster Homarus americanus to 35 individual compounds and 3 mixtures (prey odours and extracts) were studied using extracellular recording techniques. Compared against a standard mussel (Mytilus edulis) extract, these receptors were most sensitive to the amino acids L-glutamate, hydroxy-L-proline, L-aspartate, L-arginine, glycine, taurine, and L-alanine, as well as such other compounds as ammonium chloride, betaine, and the tripeptide glutathione. Most of these excitants are among those compounds most prevalent in the prey of lobsters.

  4. Epizootic shell disease in American lobsters Homarus americanus in southern New England: past, present and future.

    Science.gov (United States)

    Castro, Kathleen M; Cobb, J Stanley; Gomez-Chiarri, Marta; Tlusty, Michael

    2012-08-27

    The emergence of epizootic shell disease in American lobsters Homarus americanus in the southern New England area, USA, has presented many new challenges to understanding the interface between disease and fisheries management. This paper examines past knowledge of shell disease, supplements this with the new knowledge generated through a special New England Lobster Shell Disease Initiative completed in 2011, and suggests how epidemiological tools can be used to elucidate the interactions between fisheries management and disease.

  5. Temperature increase can cause hyperecdysonism in American lobsters (Homarus americanus) injected with ecdysterone

    Energy Technology Data Exchange (ETDEWEB)

    Aiken, D E; Waddy, S L

    1975-10-01

    In the lobster Homarus americanus the threshold dose for premolt acceleration by ecdysterone can be altered by changes in temperature. Two dose levels of ecdysterone (0.5 and 1.0 ..mu..g/g body weight) were compared at three different temperatures (10, 17, 21/sup 0/C); all three doses remained subthreshold at 10/sup 0/C but at 17/sup 0/C the 1.0-..mu..g dose caused hyperecdysonism--rapid but abnormal completion of premolt terminating in death at ecdysis. In contrast, the 0.5-..mu..g dose remained subthreshold even at 21/sup 0/C. These results demonstrate a dose-temperature relation for response to injected ecdysterone.

  6. Consumption of seeds of southwestern white pine (Pinus strobiformis) by Black Bear (Ursus americanus)

    Science.gov (United States)

    Mattson, David J.; Arundel, Terry A.

    2013-01-01

    We report a discovery of black bears (Ursus americanus) consuming seeds of southwestern white pine (Pinus strobiformis) on north slopes of the San Francisco Peaks near Flagstaff, Arizona, in high-elevation, mixed-species conifer forest. In one instance, a bear had obtained seeds from cones excavated from a larder horde made by a red squirrel (Tamiasciurus hudsonicus). Consumption of seeds of southwestern white pine by bears had not been previously documented. This discovery adds to the number of species of pine used by bears for food as well as the geographic range within which the behavior occurs.

  7. Modulation of gene expression in heart and liver of hibernating black bears (Ursus americanus

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    Yan Jun

    2011-03-01

    Full Text Available Abstract Background Hibernation is an adaptive strategy to survive in highly seasonal or unpredictable environments. The molecular and genetic basis of hibernation physiology in mammals has only recently been studied using large scale genomic approaches. We analyzed gene expression in the American black bear, Ursus americanus, using a custom 12,800 cDNA probe microarray to detect differences in expression that occur in heart and liver during winter hibernation in comparison to summer active animals. Results We identified 245 genes in heart and 319 genes in liver that were differentially expressed between winter and summer. The expression of 24 genes was significantly elevated during hibernation in both heart and liver. These genes are mostly involved in lipid catabolism and protein biosynthesis and include RNA binding protein motif 3 (Rbm3, which enhances protein synthesis at mildly hypothermic temperatures. Elevated expression of protein biosynthesis genes suggests induction of translation that may be related to adaptive mechanisms reducing cardiac and muscle atrophies over extended periods of low metabolism and immobility during hibernation in bears. Coordinated reduction of transcription of genes involved in amino acid catabolism suggests redirection of amino acids from catabolic pathways to protein biosynthesis. We identify common for black bears and small mammalian hibernators transcriptional changes in the liver that include induction of genes responsible for fatty acid β oxidation and carbohydrate synthesis and depression of genes involved in lipid biosynthesis, carbohydrate catabolism, cellular respiration and detoxification pathways. Conclusions Our findings show that modulation of gene expression during winter hibernation represents molecular mechanism of adaptation to extreme environments.

  8. Modulation of gene expression in heart and liver of hibernating black bears (Ursus americanus).

    Science.gov (United States)

    Fedorov, Vadim B; Goropashnaya, Anna V; Tøien, Øivind; Stewart, Nathan C; Chang, Celia; Wang, Haifang; Yan, Jun; Showe, Louise C; Showe, Michael K; Barnes, Brian M

    2011-03-31

    Hibernation is an adaptive strategy to survive in highly seasonal or unpredictable environments. The molecular and genetic basis of hibernation physiology in mammals has only recently been studied using large scale genomic approaches. We analyzed gene expression in the American black bear, Ursus americanus, using a custom 12,800 cDNA probe microarray to detect differences in expression that occur in heart and liver during winter hibernation in comparison to summer active animals. We identified 245 genes in heart and 319 genes in liver that were differentially expressed between winter and summer. The expression of 24 genes was significantly elevated during hibernation in both heart and liver. These genes are mostly involved in lipid catabolism and protein biosynthesis and include RNA binding protein motif 3 (Rbm3), which enhances protein synthesis at mildly hypothermic temperatures. Elevated expression of protein biosynthesis genes suggests induction of translation that may be related to adaptive mechanisms reducing cardiac and muscle atrophies over extended periods of low metabolism and immobility during hibernation in bears. Coordinated reduction of transcription of genes involved in amino acid catabolism suggests redirection of amino acids from catabolic pathways to protein biosynthesis. We identify common for black bears and small mammalian hibernators transcriptional changes in the liver that include induction of genes responsible for fatty acid β oxidation and carbohydrate synthesis and depression of genes involved in lipid biosynthesis, carbohydrate catabolism, cellular respiration and detoxification pathways. Our findings show that modulation of gene expression during winter hibernation represents molecular mechanism of adaptation to extreme environments.

  9. Application of large-scale parentage analysis for investigating natal dispersal in highly vagile vertebrates: a case study of American black bears (Ursus americanus).

    Science.gov (United States)

    Moore, Jennifer A; Draheim, Hope M; Etter, Dwayne; Winterstein, Scott; Scribner, Kim T

    2014-01-01

    Understanding the factors that affect dispersal is a fundamental question in ecology and conservation biology, particularly as populations are faced with increasing anthropogenic impacts. Here we collected georeferenced genetic samples (n = 2,540) from three generations of black bears (Ursus americanus) harvested in a large (47,739 km2), geographically isolated population and used parentage analysis to identify mother-offspring dyads (n = 337). We quantified the effects of sex, age, habitat type and suitability, and local harvest density at the natal and settlement sites on the probability of natal dispersal, and on dispersal distances. Dispersal was male-biased (76% of males dispersed) but a small proportion (21%) of females also dispersed, and female dispersal distances (mean ± SE  =  48.9±7.7 km) were comparable to male dispersal distances (59.0±3.2 km). Dispersal probabilities and dispersal distances were greatest for bears in areas with high habitat suitability and low harvest density. The inverse relationship between dispersal and harvest density in black bears suggests that 1) intensive harvest promotes restricted dispersal, or 2) high black bear population density decreases the propensity to disperse. Multigenerational genetic data collected over large landscape scales can be a powerful means of characterizing dispersal patterns and causal associations with demographic and landscape features in wild populations of elusive and wide-ranging species.

  10. Application of large-scale parentage analysis for investigating natal dispersal in highly vagile vertebrates: a case study of American black bears (Ursus americanus.

    Directory of Open Access Journals (Sweden)

    Jennifer A Moore

    Full Text Available Understanding the factors that affect dispersal is a fundamental question in ecology and conservation biology, particularly as populations are faced with increasing anthropogenic impacts. Here we collected georeferenced genetic samples (n = 2,540 from three generations of black bears (Ursus americanus harvested in a large (47,739 km2, geographically isolated population and used parentage analysis to identify mother-offspring dyads (n = 337. We quantified the effects of sex, age, habitat type and suitability, and local harvest density at the natal and settlement sites on the probability of natal dispersal, and on dispersal distances. Dispersal was male-biased (76% of males dispersed but a small proportion (21% of females also dispersed, and female dispersal distances (mean ± SE  =  48.9±7.7 km were comparable to male dispersal distances (59.0±3.2 km. Dispersal probabilities and dispersal distances were greatest for bears in areas with high habitat suitability and low harvest density. The inverse relationship between dispersal and harvest density in black bears suggests that 1 intensive harvest promotes restricted dispersal, or 2 high black bear population density decreases the propensity to disperse. Multigenerational genetic data collected over large landscape scales can be a powerful means of characterizing dispersal patterns and causal associations with demographic and landscape features in wild populations of elusive and wide-ranging species.

  11. Vias bilíferas no tapir ou anta (Tapirus americanus

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    Maria Angélica Miglino

    1994-06-01

    Full Text Available Os autores estudaram as vias bilíferas do tapir ou anta (Tapirus americanus, após injeção do sistema excretor do fígado de 2 animais, machos e adultos, com látex Neoprene 650 corado, fixação das peças com solução aquosa de formol a 10% e dissecação. O ductus choledocus origina-se a partir da confluência do ramus principalis dexter e do sinister, sendo este animal desprovido de vesícula biliar. O ramus principalis dexter é formado pelos ramus ventralis lobi dextri, ramus medius lobi dextri, ramus dorsalis lobi dextri e ramus processi caudati, os quais se unem por diferentes modalidades. O ramus principalis sinister é formado pelos ramus medius lobi sinistri lateralis, ramus dorsalis lobi sinistri lateralis, ramus lobi quadrati, ramus ventralis lobi sinistri lateralis e ramus lobi sinistri medialis, com diferentes arranjos

  12. SURGICAL CORRECTION OF BILATERAL PATELLAR LUXATION IN AN AMERICAN BLACK BEAR CUB (URSUS AMERICANUS).

    Science.gov (United States)

    Bennett, Katarina R; Desmarchelier, Marion R; Bailey, Trina R

    2015-06-01

    A wild orphaned male American black bear cub ( Ursus americanus ) presented with hind limb gait abnormalities and was found to have bilateral grade 3 laterally luxating patellas. There were no other significant abnormalities detected on neurologic, radiographic, or hematologic examinations. The trochlear grooves were deepened with a chondroplasty, and the redundant soft tissues imbricated. There was a marked improvement in the bear's gait postoperatively, with an apparent full return to function. To the authors' knowledge, patellar luxation has not been reported in the Ursidae family, and the success in this case suggests that this technique may be used in large wild or captive carnivore cubs.

  13. Studies on endoparasites of the black bear (Ursus americanus) in the southeastern United States.

    Science.gov (United States)

    Crum, J M; Nettles, V F; Davidson, W R

    1978-04-01

    Examination of 53 black bears (Ursus americanus) from six states in the southeastern United States revealed at least 17 species of endoparasites, including Sarcocystis sp., Spirometra mansonoides (spargana), Macracanthorhynchus ingens, Ancylostoma caninum, Arthrocephalus lotoris, Baylisascaris transfuga, Capillaria aerophila, Capillaria putorii, Crenosoma sp., Cyathospirura sp., Dirofilaria immitis, Gnathostoma sp., Gongylonema pulchrum, microfilariae, Molineus barbatus, Physaloptera sp. and Strongyloides sp. Twelve of these represent new host records for black bear, and two are considered to be new species. Data are presented on prevalence, intensity and geographic distribution of each species. Pathologic effects were associated with infections of spargana of S. mansonoides and adults of C. aerophilia.

  14. Aspartic cathepsin D endopeptidase contributes to extracellular digestion in clawed lobsters Homarus americanus and Homarus gammarus.

    Science.gov (United States)

    Rojo, Liliana; Muhlia-Almazan, Adriana; Saborowski, Reinhard; García-Carreño, Fernando

    2010-11-01

    Acid digestive proteinases were studied in the gastric fluids of two species of clawed lobster (Homarus americanus and Homarus gammarus). An active protein was identified in both species as aspartic proteinase by specific inhibition with pepstatin A. It was confirmed as cathepsin D by mass mapping, N-terminal, and full-length cDNA sequencing. Both lobster species transcribed two cathepsin D mRNAs: cathepsin D1 and cathepsin D2. Cathepsin D1 mRNA was detected only in the midgut gland, suggesting its function as a digestive enzyme. Cathepsin D2 mRNA was found in the midgut gland, gonads, and muscle. The deduced amino acid sequence of cathepsin D1 and cathepsin D2 possesses two catalytic DTG active-site motifs, the hallmark of aspartic proteinases. The putatively active cathepsin D1 has a molecular mass of 36.4 kDa and a calculated pI of 4.14 and possesses three potential glycosylation sites. The sequences showed highest similarities with cathepsin D from insects but also with another crustacean cathepsin D. Cathepsin D1 transcripts were quantified during a starvation period using real-time qPCR. In H. americanus, 15 days of starvation did not cause significant changes, but subsequent feeding caused a 2.5-fold increase. In H. gammarus, starvation caused a 40% reduction in cathepsin D1 mRNA, and no effect was observed with subsequent feeding.

  15. The sensorial structures of Spondylus americanus Hermann,1781 (Mollusca: Bivalvia, Spondylidae

    Directory of Open Access Journals (Sweden)

    Marina Gomes Viana

    2007-09-01

    Full Text Available Adult animals of Spondylus americanus were analyzed and specialized sensorial structures, the sensorial papillae and the eyes, were characterized. The sensorial papillae were projections on the edge of the mantle in form of light brown fingers which had function of percepting stimulus coming from the medium. They were constituted by loose conjunctive tissues with longitudinal muscular fibers and externally covered by ciliated cubic epithelium, which presented high amount of melanocytes that gave the coloration of the papillae. The eyes were more complex, being on small stalks histologically similar to the papillae. They exhibited a circular formate and had a metallic blue color. Theses structures were constituted by a corneo epithelium, cornea, lens, retina, basal stalk, periocular band and optical nerve. The eyes were distributed asymmetrically to both valves related with the sedentarism of the species. Right valve presented a smaller number of eyes when compared to left one.Foram examinados exemplares adultos de Spondylus. americanus Hermann, 1781 e estruturas especializadas na percepção de estímulos foram caracterizadas: as papilas sensoriais e os ocelos. As papilas sensoriais são projeções do bordo manto em forma de dedos de cor castanha e com a função de perceber estímulos vindo do meio, são constituídas por tecido conjuntivo frouxo contendo fibras musculares longitudinais e revestidas externamente por epitélio cúbico ciliado, o qual apresenta grande quantidade de melanócitos, que dão a coloração das papilas. Os ocelos são mais complexos, estando sobre pequenos pedúnculos histologicamente semelhante às papilas, têm formato circular e possui cor azul metálica. Constituí-se por um epitélio córneo, córnea, lente, retina, pedúnculo basal, banda periocular e nervo óptico. Os ocelos distribuem-se assimetricamente por ambas as valvas, o que está relacionado com o sedentarismo da espécie. A valva direita apresenta

  16. Use of acepromazine and medetomidine in combination for sedation and handling of Rocky Mountain elk (Cervus elaphus nelsoni) and black bears (Ursus americanus).

    Science.gov (United States)

    Wolfe, Lisa L; Johnson, Heather E; Fisher, Mark C; Sirochman, Michael A; Kraft, Benjamin; Miller, Michael W

    2014-10-01

    We opportunistically evaluated a combination of acepromazine maleate and medetomidine HCl for use in sedating Rocky Mountain elk (Cervus elaphus nelsoni) and black bears (Ursus americanus) as an alternative to scheduled drug combinations. This combination was safe and effective with limitations inherent in its sedative rather than anesthetic properties.

  17. Structure of a two-CAP-domain protein from the human hookworm parasite Necator americanus

    Energy Technology Data Exchange (ETDEWEB)

    Asojo, Oluwatoyin A., E-mail: oasojo@unmc.edu [Pathology and Microbiology Department, 986495 Nebraska Medical Center, Omaha, NE 68198-6495 (United States)

    2011-05-01

    The first structure of a two-CAP-domain protein, Na-ASP-1, from the major human hookworm parasite N. americanus refined to a resolution limit of 2.2 Å is presented. Major proteins secreted by the infective larval stage hookworms upon host entry include Ancylostoma secreted proteins (ASPs), which are characterized by one or two CAP (cysteine-rich secretory protein/antigen 5/pathogenesis related-1) domains. The CAP domain has been reported in diverse phylogenetically unrelated proteins, but has no confirmed function. The first structure of a two-CAP-domain protein, Na-ASP-1, from the major human hookworm parasite Necator americanus was refined to a resolution limit of 2.2 Å. The structure was solved by molecular replacement (MR) using Na-ASP-2, a one-CAP-domain ASP, as the search model. The correct MR solution could only be obtained by truncating the polyalanine model of Na-ASP-2 and removing several loops. The structure reveals two CAP domains linked by an extended loop. Overall, the carboxyl-terminal CAP domain is more similar to Na-ASP-2 than to the amino-terminal CAP domain. A large central cavity extends from the amino-terminal CAP domain to the carboxyl-terminal CAP domain, encompassing the putative CAP-binding cavity. The putative CAP-binding cavity is a characteristic cavity in the carboxyl-terminal CAP domain that contains a His and Glu pair. These residues are conserved in all single-CAP-domain proteins, but are absent in the amino-terminal CAP domain. The conserved His residues are oriented such that they appear to be capable of directly coordinating a zinc ion as observed for CAP proteins from reptile venoms. This first structure of a two-CAP-domain ASP can serve as a template for homology modeling of other two-CAP-domain proteins.

  18. Structure of a two-CAP-domain protein from the human hookworm parasite Necator americanus

    International Nuclear Information System (INIS)

    Asojo, Oluwatoyin A.

    2011-01-01

    The first structure of a two-CAP-domain protein, Na-ASP-1, from the major human hookworm parasite N. americanus refined to a resolution limit of 2.2 Å is presented. Major proteins secreted by the infective larval stage hookworms upon host entry include Ancylostoma secreted proteins (ASPs), which are characterized by one or two CAP (cysteine-rich secretory protein/antigen 5/pathogenesis related-1) domains. The CAP domain has been reported in diverse phylogenetically unrelated proteins, but has no confirmed function. The first structure of a two-CAP-domain protein, Na-ASP-1, from the major human hookworm parasite Necator americanus was refined to a resolution limit of 2.2 Å. The structure was solved by molecular replacement (MR) using Na-ASP-2, a one-CAP-domain ASP, as the search model. The correct MR solution could only be obtained by truncating the polyalanine model of Na-ASP-2 and removing several loops. The structure reveals two CAP domains linked by an extended loop. Overall, the carboxyl-terminal CAP domain is more similar to Na-ASP-2 than to the amino-terminal CAP domain. A large central cavity extends from the amino-terminal CAP domain to the carboxyl-terminal CAP domain, encompassing the putative CAP-binding cavity. The putative CAP-binding cavity is a characteristic cavity in the carboxyl-terminal CAP domain that contains a His and Glu pair. These residues are conserved in all single-CAP-domain proteins, but are absent in the amino-terminal CAP domain. The conserved His residues are oriented such that they appear to be capable of directly coordinating a zinc ion as observed for CAP proteins from reptile venoms. This first structure of a two-CAP-domain ASP can serve as a template for homology modeling of other two-CAP-domain proteins

  19. Molecular phylogeny and SNP variation of polar bears (Ursus maritimus), brown bears (U. arctos), and black bears (U. americanus) derived from genome sequences.

    Science.gov (United States)

    Cronin, Matthew A; Rincon, Gonzalo; Meredith, Robert W; MacNeil, Michael D; Islas-Trejo, Alma; Cánovas, Angela; Medrano, Juan F

    2014-01-01

    We assessed the relationships of polar bears (Ursus maritimus), brown bears (U. arctos), and black bears (U. americanus) with high throughput genomic sequencing data with an average coverage of 25× for each species. A total of 1.4 billion 100-bp paired-end reads were assembled using the polar bear and annotated giant panda (Ailuropoda melanoleuca) genome sequences as references. We identified 13.8 million single nucleotide polymorphisms (SNP) in the 3 species aligned to the polar bear genome. These data indicate that polar bears and brown bears share more SNP with each other than either does with black bears. Concatenation and coalescence-based analysis of consensus sequences of approximately 1 million base pairs of ultraconserved elements in the nuclear genome resulted in a phylogeny with black bears as the sister group to brown and polar bears, and all brown bears are in a separate clade from polar bears. Genotypes for 162 SNP loci of 336 bears from Alaska and Montana showed that the species are genetically differentiated and there is geographic population structure of brown and black bears but not polar bears.

  20. Genetic health and population monitoring of two small black bear (Ursus americanus populations in Alabama, with a regional perspective of genetic diversity and exchange.

    Directory of Open Access Journals (Sweden)

    John P Draper

    Full Text Available One of the major concerns in conservation today is the loss of genetic diversity which is a frequent consequence of population isolation and small population sizes. Fragmentation of populations and persecution of carnivores has posed a substantial threat to the persistence of free ranging carnivores in North America since the arrival of European settlers. Black bears have seen significant reductions in range size from their historic extent, which is most pronounced in the southeastern United States and even more starkly in Alabama where until recently bears were reduced to a single geographically isolated population in the Mobile River Basin. Recently a second population has naturally re-established itself in northeastern Alabama. We sought to determine size, genetic diversity and genetic connectivity for these two populations in relation to other regional populations. Both populations of black bears in Alabama had small population sizes and had moderate to low genetic diversity, but showed different levels of connectivity to surrounding populations of bears. The Mobile River Basin population had a small population size at only 86 individuals (76-124, 95% C.I., the lowest genetic diversity of compared populations (richness = 2.33, Ho and He = 0.33, and showed near complete genetic isolation from surrounding populations across multiple tests. The newly recolonizing population in northeastern Alabama had a small but growing population doubling in 3 years (34 individuals 26-43, 95% C.I., relatively moderate genetic diversity compared to surrounding populations (richness = 3.32, Ho = 0.53, He = 0.65, and showed a high level of genetic connectivity with surrounding populations.

  1. Genetic health and population monitoring of two small black bear (Ursus americanus) populations in Alabama, with a regional perspective of genetic diversity and exchange.

    Science.gov (United States)

    Draper, John P; Waits, Lisette P; Adams, Jennifer R; Seals, Christopher L; Steury, Todd D

    2017-01-01

    One of the major concerns in conservation today is the loss of genetic diversity which is a frequent consequence of population isolation and small population sizes. Fragmentation of populations and persecution of carnivores has posed a substantial threat to the persistence of free ranging carnivores in North America since the arrival of European settlers. Black bears have seen significant reductions in range size from their historic extent, which is most pronounced in the southeastern United States and even more starkly in Alabama where until recently bears were reduced to a single geographically isolated population in the Mobile River Basin. Recently a second population has naturally re-established itself in northeastern Alabama. We sought to determine size, genetic diversity and genetic connectivity for these two populations in relation to other regional populations. Both populations of black bears in Alabama had small population sizes and had moderate to low genetic diversity, but showed different levels of connectivity to surrounding populations of bears. The Mobile River Basin population had a small population size at only 86 individuals (76-124, 95% C.I.), the lowest genetic diversity of compared populations (richness = 2.33, Ho and He = 0.33), and showed near complete genetic isolation from surrounding populations across multiple tests. The newly recolonizing population in northeastern Alabama had a small but growing population doubling in 3 years (34 individuals 26-43, 95% C.I.), relatively moderate genetic diversity compared to surrounding populations (richness = 3.32, Ho = 0.53, He = 0.65), and showed a high level of genetic connectivity with surrounding populations.

  2. Crystallization and preliminary X-ray analysis of Na-SAA-2 from the human hookworm parasite Necator americanus

    International Nuclear Information System (INIS)

    Asojo, Oluwatoyin A.; Goud, Gaddam N.; Zhan, Bin; Ordonez, Katherine; Sedlacek, Meghan; Homma, Kohei; Deumic, Vehid; Gupta, Richi; Brelsford, Jill; Price, Merelyn K.; Ngamelue, Michelle N.; Hotez, Peter J.

    2010-01-01

    The purification, crystallization and preliminary X-ray diffraction analysis of a surface-associated antigen from the major human hookworm N. americanus is presented. Human hookworms are among the most pathogenic soil-transmitted helminths. These parasitic nematodes have co-evolved with the host and are able to maintain a high worm burden for decades without killing the human host. However, it is possible to develop vaccines against laboratory-challenge hookworm infections using either irradiated third-state infective larvae (L3) or enzymes from the adult parasites. In an effort to control hookworm infection globally, the Human Hookworm Vaccine Initiative, a product-development partnership with the Sabin Vaccine Institute to develop new control tools including vaccines, has identified a battery of protein antigens, including surface-associated antigens (SAAs) from L3. SAA proteins are characterized by a 13 kDa conserved domain of unknown function. SAA proteins are found on the surface of infective L3 stages (and some adult stages) of different nematode parasites, suggesting that they may play important roles in these organisms. The atomic structures and function of SAA proteins remain undetermined and in an effort to remedy this situation recombinant Na-SAA-2 from the most prevalent human hookworm parasite Necator americanus has been expressed, purified and crystallized. Useful X-ray data have been collected to 2.3 Å resolution from a crystal that belonged to the monoclinic space group C2 with unit-cell parameters a = 73.88, b = 35.58, c = 42.75 Å, β = 116.1°

  3. Expression, purification, and characterization of the Necator americanus aspartic protease-1 (Na-APR-1 (M74)) antigen, a component of the bivalent human hookworm vaccine.

    Science.gov (United States)

    Seid, Christopher A; Curti, Elena; Jones, R Mark; Hudspeth, Elissa; Rezende, Wanderson; Pollet, Jeroen; Center, Lori; Versteeg, Leroy; Pritchard, Sonya; Musiychuk, Konstantin; Yusibov, Vidadi; Hotez, Peter J; Bottazzi, Maria Elena

    2015-01-01

    Over 400 million people living in the world's poorest developing nations are infected with hookworms, mostly of the genus Necator americanus. A bivalent human hookworm vaccine composed of the Necator americanus Glutathione S-Transferase-1 (Na-GST-1) and the Necator americanus Aspartic Protease-1 (Na-APR-1 (M74)) is currently under development by the Sabin Vaccine Institute Product Development Partnership (Sabin PDP). Both monovalent vaccines are currently in Phase 1 trials. Both Na-GST-1 and Na-APR-1 antigens are expressed as recombinant proteins. While Na-GST-1 was found to express with high yields in Pichia pastoris, the level of expression of Na-APR-1 in this host was too low to be suitable for a manufacturing process. When the tobacco plant Nicotiana benthamiana was evaluated as an expression system, acceptable levels of solubility, yield, and stability were attained. Observed expression levels of Na-APR-1 (M74) using this system are ∼300 mg/kg. Here we describe the achievements and obstacles encountered during process development as well as characterization and stability of the purified Na-APR-1 (M74) protein and formulated vaccine. The expression, purification and analysis of purified Na-APR-1 (M74) protein obtained from representative 5 kg reproducibility runs performed to qualify the Na-APR-1 (M74) production process is also presented. This process has been successfully transferred to a pilot plant and a 50 kg scale manufacturing campaign under current Good Manufacturing Practice (cGMP) has been performed. The 50 kg run has provided a sufficient amount of protein to support the ongoing hookworm vaccine development program of the Sabin PDP.

  4. Evaluation of black bear (Ursus americanus) diet and consequences in its conservation in Sierra de Picachos, Nuevo León, Mexico

    OpenAIRE

    Juárez-Casillas, Luis Antonio; Varas, Cora

    2013-01-01

    Black bears (Ursus americanus) are considered endangered in Mexico. In northern Mexico, bears are considered responsible for preying on livestock, damaging private property, and crops; therefore they are killed to protect locals' livelihoods. There is a need to understand bears' ecological requirements in order to create conservation plans that include human-bear conflict resolution and that reduce the hunting of this endangered species. We studied the diet of black bears in the Sierra de Pic...

  5. Effects of Multiple Routes of Cadmium Exposure on the Hibernation Success of the American Toad (Bufo americanus)

    Science.gov (United States)

    James, S.M.; Little, E.E.; Semlitsch, R.D.

    2004-01-01

    The effects of multiple routes of cadmium exposure on juvenile American toads (Bufo americanus) were evaluated using environmentally relevant concentrations. During or after exposure, toads were individually hibernated for 172 days at approximately 4??C. The following experiments were conducted: (1) dermal exposure (hibernation in soil contaminated with up to 120 ??g Cd/ g (dry weight)); (2) injection exposure (single injection with cadmium to achieve a maximum whole-body nominal concentration of 3 ??g Cd/g (wet weight) 12 days before hibernation in uncontaminated soil); and, (3) oral exposure (feeding with mealworms containing ???16 ??g Cd/g (dry weight) for 50 days before hibernation in uncontaminated soil)., We hypothesized that sublethal levels of cadmium would become lethal during hibernation because of combined chemical and cold stress. No prehibernation mortality occurred in the injection and oral exposure studies. There was a significant treatment effect on whole-body cadmium concentration in toads orally or dermally exposed and on percent of cadmium retention in toads orally exposed. There was also a trend of increased time-to-burrowing and more toads partially buried with greater cadmium concentration in the dermal study, which indicated avoidance. In all 3 experiments, no significant differences were found among cadmium treatments in hibernation survival, percent of mass loss, or locomotor performance. However, toads fed mealworms averaging 4.7 ??g Cd/g (dry weight) had only 56% survival compared with 100% survival for controls. Although our results suggest that environmentally relevant levels of cadmium do not pose a great risk to American toads, factors such as soil type or prey species may increase cadmium bioavailability, and other amphibian species may be more sensitive to cadmium than B. americanus.

  6. Post-mating interactions and their effects on fitness of female and male Echinothrips americanus (Thysanoptera: Thripidae), a new insect pest in China.

    Science.gov (United States)

    Li, Xiao-Wei; Jiang, Hong-Xue; Zhang, Xiao-Chen; Shelton, Anthony M; Feng, Ji-Nian

    2014-01-01

    Post-mating, sexual interactions of opposite sexes differ considerably in different organisms. Post-mating interactions such as re-mating behavior and male harassment can affect the fitness of both sexes. Echinothrips americanus is a new insect pest in Mainland China, and little is known about its post-mating interactions. In this study, we observed re-mating frequency and male harassment frequency and their effects on fitness parameters and offspring sex ratios of E. americanus females. Furthermore, we tested the impact of mating and post-mating interactions on fitness parameters of males. Our results revealed that the re-mating frequency in female adults was extremely low during a 30-day period. However, post-mating interactions between females and males, consisting mainly of male harassment and female resistance, did occur and significantly reduced female longevity and fecundity. Interestingly, increased access to males did not affect the ratio of female offspring. For males, mating dramatically reduced their longevity. However, post-mating interactions with females had no effects on the longevity of mated males. These results enrich our basic knowledge about female and male mating and post-mating behaviors in this species and provide important information about factors that may influence population regulation of this important pest species.

  7. Post-mating interactions and their effects on fitness of female and male Echinothrips americanus (Thysanoptera: Thripidae, a new insect pest in China.

    Directory of Open Access Journals (Sweden)

    Xiao-Wei Li

    Full Text Available Post-mating, sexual interactions of opposite sexes differ considerably in different organisms. Post-mating interactions such as re-mating behavior and male harassment can affect the fitness of both sexes. Echinothrips americanus is a new insect pest in Mainland China, and little is known about its post-mating interactions. In this study, we observed re-mating frequency and male harassment frequency and their effects on fitness parameters and offspring sex ratios of E. americanus females. Furthermore, we tested the impact of mating and post-mating interactions on fitness parameters of males. Our results revealed that the re-mating frequency in female adults was extremely low during a 30-day period. However, post-mating interactions between females and males, consisting mainly of male harassment and female resistance, did occur and significantly reduced female longevity and fecundity. Interestingly, increased access to males did not affect the ratio of female offspring. For males, mating dramatically reduced their longevity. However, post-mating interactions with females had no effects on the longevity of mated males. These results enrich our basic knowledge about female and male mating and post-mating behaviors in this species and provide important information about factors that may influence population regulation of this important pest species.

  8. Development and evaluation of a Loop Mediated Isothermal Amplification (LAMP) technique for the detection of hookworm (Necator americanus) infection in fecal samples

    OpenAIRE

    Mugambi, Robert Muriuki; Agola, Eric L.; Mwangi, Ibrahim N.; Kinyua, Johnson; Shiraho, Esther Andia; Mkoji, Gerald M.

    2015-01-01

    Background Hookworm infection is a major concern in sub-Saharan Africa, particularly in children and pregnant women. Necator americanus and Ancylostoma duodenale are responsible for this condition. Hookworm disease is one of the Neglected tropical diseases (NTDs) that are targeted for elimination through global mass chemotherapy. To support this there is a need for reliable diagnostic tools. The conventional diagnostic test, Kato-Katz that is based on microscopic detection of parasite ova in ...

  9. Hookworm infections among migrant workers in Malaysia: Molecular identification of Necator americanus and Ancylostoma duodenale.

    Science.gov (United States)

    Sahimin, Norhidayu; Lim, Yvonne Ai Lian; Douadi, Benacer; Mohd Khalid, Mohd Khairul Nizam; Wilson, John-James; Behnke, Jerzy M; Mohd Zain, Siti Nursheena

    2017-09-01

    Ongoing urbanisation of the working population as well as cross-border migration of workers particularly into large cities has contributed to the development and growth of urban slums. These deprived areas are conducive for the transmission of intestinal pathogens including hookworm. The aim of this study was to determine both the prevalence and species identity of hookworm infections among the migrant worker community in Malaysia. A total of 388 faecal samples were collected from migrant workers between September 2014 and August 2015, representing workers from five employment sectors: construction, manufacturing, agriculture and plantations, food services and domestic services. Faecal samples were examined by microscopy and positive samples were subjected to molecular analysis. A total of 51 samples (13.1%) were positive by microscopy for hookworm infections. A two-step PCR based method amplifying a fragment of the 28S rRNA-ITS2 region was used to identify infections by Necator americanus and Ancylostoma spp. PCR products positive for Ancylostoma spp. were sequenced bidirectionally, and sequences analysed through BLAST and phylogenetic analysis. Samples containing Ancylostoma duodenale were further characterized by amplification and sequencing a fragment of cytochrome c oxidase subunit 1 (cox1) gene. PCR amplicons were successfully obtained from 42 (82.4%) of 51 samples, with 81.0% (34 of 42) identified as Necator americanus, 16.7% (7 of 42) as Ancylostoma spp. and 2.4% (1 of 42) as mixed infections of both species. All eight Ancylostoma spp. were confirmed to be Ancylostoma duodenale and this is the first time A. duodenale was reported in Malaysia. Samples containing A. duodenale from Nepalese and Indonesian workers shared high-similarity and were distinct compared to sequences from other countries. This study highlights the prevalence of hookworm infections among migrant workers living in Malaysia. Our findings underscore the necessity of screening migrant

  10. Spatial memory in captive American black bears (Ursus americanus).

    Science.gov (United States)

    Zamisch, Valeria; Vonk, Jennifer

    2012-11-01

    The spatial memory and foraging strategies of four adult captive-born American black bears (Ursus americanus) were explored in four experiments using a simulated foraging task. In the first three experiments, each session consisted of two phases separated by a delay: During the exploration phase, subjects foraged among a set of baited and unbaited sites. During the delay, the same locations were rebaited and subjects were released again and allowed to search the sites (search phase). In Experiments 1a and 1b, different sites were baited each day and the interval between exploration and search was short (4 hr or 15 min). Subjects were not accurate at recovering the food items in either experiment. In Experiment 2, an "informed forager" paradigm was used in which one subject was given privileged knowledge about the location of the food during the exploration phase and was later released with an "uninformed" competitor during the search phase. The bears did not achieve above-chance recovery accuracy even in the presence of a competitor. In Experiment 3, the same two of four sites were continually baited and the bears were released simultaneously over a period of 20 days, with each baiting separated by 2 or 3 days. As a group, the bears' foraging accuracy with repeated baiting and longer intervals approached greater than chance accuracy. Results suggest some limitations on bears' use of spatial memory in captive environments, but reveal the potential for use of spatial memory over longer delays.

  11. Mark-recapture using tetracycline and genetics reveal record-high bear density

    Science.gov (United States)

    Peacock, E.; Titus, K.; Garshelis, D.L.; Peacock, M.M.; Kuc, M.

    2011-01-01

    We used tetracycline biomarking, augmented with genetic methods to estimate the size of an American black bear (Ursus americanus) population on an island in Southeast Alaska. We marked 132 and 189 bears that consumed remote, tetracycline-laced baits in 2 different years, respectively, and observed 39 marks in 692 bone samples subsequently collected from hunters. We genetically analyzed hair samples from bait sites to determine the sex of marked bears, facilitating derivation of sex-specific population estimates. We obtained harvest samples from beyond the study area to correct for emigration. We estimated a density of 155 independent bears/100 km2, which is equivalent to the highest recorded for this species. This high density appears to be maintained by abundant, accessible natural food. Our population estimate (approx. 1,000 bears) could be used as a baseline and to set hunting quotas. The refined biomarking method for abundance estimation is a useful alternative where physical captures or DNA-based estimates are precluded by cost or logistics. Copyright ?? 2011 The Wildlife Society.

  12. Development and evaluation of a Loop Mediated Isothermal Amplification (LAMP) technique for the detection of hookworm (Necator americanus) infection in fecal samples.

    Science.gov (United States)

    Mugambi, Robert Muriuki; Agola, Eric L; Mwangi, Ibrahim N; Kinyua, Johnson; Shiraho, Esther Andia; Mkoji, Gerald M

    2015-11-06

    Hookworm infection is a major concern in sub-Saharan Africa, particularly in children and pregnant women. Necator americanus and Ancylostoma duodenale are responsible for this condition. Hookworm disease is one of the Neglected tropical diseases (NTDs) that are targeted for elimination through global mass chemotherapy. To support this there is a need for reliable diagnostic tools. The conventional diagnostic test, Kato-Katz that is based on microscopic detection of parasite ova in faecal samples, is not effective due to its low sensitivity that is brought about mainly by non-random distribution of eggs in stool and day to day variation in egg output. It is tedious, cumbersome to perform and requires experience for correct diagnosis. LAMP-based tests are simple, relatively cheap, offer greater sensitivity, specificity than existing tests, have high throughput capability, and are ideal for use at the point of care. We have developed a LAMP diagnostic test for detection of hookworm infection in faecal samples. LAMP relies on auto cycling strand displacement DNA synthesis performed at isothermal temperature by Bst polymerase and a set of 4 specific primers. The primers used in the LAMP assay were based on the second Internal Transcribed Spacer (ITS-2) region and designed using Primer Explorer version 4 Software. The ITS-2 region of the ribosomal gene (rDNA) was identified as a suitable target due to its low mutation rates and substantial differences between species. DNA was extracted directly from human faecal samples, followed by LAMP amplification at isothermal temperature of 63 °C for 1 h. Amplicons were visualized using gel electrophoresis and SYBR green dye. Both specificity and sensitivity of the assay were determined. The LAMP based technique developed was able to detect N. americanus DNA in faecal samples. The assay showed 100 % specificity and no cross-reaction was observed with other helminth parasites (S. mansoni, A. lumbricoides or T. trichiura). The

  13. Ulcerative enteritis in Homarus americanus: case report and molecular characterization of intestinal aerobic bacteria of apparently healthy lobsters in live storage.

    Science.gov (United States)

    Battison, Andrea L; Després, Béatrice M; Greenwood, Spencer J

    2008-10-01

    An intermoult male American lobster, Homarus americanus, with severe intestinal lesions was encountered while collecting samples of aerobic intestinal bacteria from lobsters held in an artificial sea-water recirculation aquarium system. Grossly, the intestine was firm, thickened, and white. Histologic examination revealed a severe, diffuse, ulcerative enteritis which spared the chitin-lined colon, somewhat similar to hemocytic enteritis of shrimp. The bacterial isolates from this lobster were compared to 11 other lobsters lacking gross intestinal lesions. Two organisms, one identified as Vibrio sp. and another most similar to an uncultured proteobacterium (98.9%), clustering with Rhanella and Serratia species using 16S rDNA PCR, were isolated from the intestines of the 11, grossly normal, lobsters and the affected lobster. An additional two intestinal isolates were cultured only from the lobster with ulcerative enteritis. One, a Flavobacterium, similar to Lutibacter litoralis (99.3%), possibly represented a previously described commensal of the distal intestine. The second, a Vibrio sp., was unique to the affected animal. While the etiology of the ulcerative enteritis remains undetermined, this report represents the first description of gross and histologic findings in H. americanus of a condition which has morphologic similarities to hemocytic enteritis of shrimp. An additional observation was a decrease in the number of intestinal isolates recovered from the 11 apparently healthy lobsters compared to that previously reported for recently harvested lobster. More comprehensive studies of the relationship between the health of lobsters, gut microbial flora and the husbandry and environment maintained within holding units are warranted.

  14. Experimental Infection and Detection of Necrotizing Hepatopancreatitis Bacterium in the American Lobster Homarus americanus

    Directory of Open Access Journals (Sweden)

    Luz A. Avila-Villa

    2012-01-01

    Full Text Available Necrotizing hepatopancreatitis bacterium (NHPB is an obligated intracellular bacteria causing severe hepatopancreatic damages and mass mortalities in penaeid shrimp. The worldwide distribution of penaeid shrimp as alien species threatens the life cycle of other crustacean species. The aim of the experiment was to evaluate the possibility of experimentally infecting the American lobster (Homarus americanus with NHPB extracted from shrimp hepatopancreas. Homogenates from infected shrimp were fed by force to lobsters. Other group of lobsters was fed with homogenates of NHPB-free hepatopancreas. After the 15th day from initial inoculation, the presence of NHPB was detected by polymerase chain reaction in feces and hepatopancreas from lobsters inoculated with infected homogenates. Necrotized spots were observed in the surface of lobster hepatopancreas. In contrast, lobsters fed on NHPB-free homogenates resulted negative for NHPB. Evidence suggests the plasticity of NHPB which can infect crustacean from different species and inhabiting diverse latitudes. Considering the results, the American lobster could be a good candidate to maintain available NHPB in vivo.

  15. Experimental Infection and Detection of Necrotizing Hepatopancreatitis Bacterium in the American Lobster Homarus americanus

    Science.gov (United States)

    Avila-Villa, Luz A.; Gollas-Galván, Teresa; Martínez-Porchas, Marcel; Mendoza-Cano, Fernando; Hernández-López, Jorge

    2012-01-01

    Necrotizing hepatopancreatitis bacterium (NHPB) is an obligated intracellular bacteria causing severe hepatopancreatic damages and mass mortalities in penaeid shrimp. The worldwide distribution of penaeid shrimp as alien species threatens the life cycle of other crustacean species. The aim of the experiment was to evaluate the possibility of experimentally infecting the American lobster (Homarus americanus) with NHPB extracted from shrimp hepatopancreas. Homogenates from infected shrimp were fed by force to lobsters. Other group of lobsters was fed with homogenates of NHPB-free hepatopancreas. After the 15th day from initial inoculation, the presence of NHPB was detected by polymerase chain reaction in feces and hepatopancreas from lobsters inoculated with infected homogenates. Necrotized spots were observed in the surface of lobster hepatopancreas. In contrast, lobsters fed on NHPB-free homogenates resulted negative for NHPB. Evidence suggests the plasticity of NHPB which can infect crustacean from different species and inhabiting diverse latitudes. Considering the results, the American lobster could be a good candidate to maintain available NHPB in vivo. PMID:22645497

  16. Excretory calcinosis: a new fatal disease of wild American lobsters Homarus americanus.

    Science.gov (United States)

    Dove, Alistair D M; LoBue, Carl; Bowser, Paul; Powell, Mark

    2004-03-10

    A significant number of moribund and dead lobsters Homarus americanus were reported to New York state authorities by lobster fishers in Long Island Sound (LIS) during the summer of 2002. Morbid lobsters were characterised by an orange discolouration of the abdomen, lethargy, an excess of epibionts and poor post-capture survival. On necropsy, severe extensive multifocal or diffuse mineralised granulomatous inflammation of the gills and antennal glands was the most striking pathology. In the gills, granulomas often occluded the lumen of filaments, resulting in congestion, ischemia and coagulative necrosis of gill tissues. In the antennal glands, granulomas were concentrated along the border between the coelomosac and labyrinth. No significant pathogens were recovered from diseased individuals. In prechronic individuals, however, it was evident that granulomas were focused around calcium carbonate (aragonite) crystals. This disease may result from anomalously high sea-bottom temperatures in LIS (approximately 23 degrees C) during the summer of 2002 and associated disruptions of the calcium chemistry of lobsters in favour of deposition of minerals in soft tissues. The ultimate cause of death of affected lobsters is probably respiratory failure due to reduced effective surface area of the gills, exacerbated by hypermetabolic temperatures and an abundance of epibionts.

  17. American lobsters (Homarus americanus not surviving during air transport: evaluation of microbial spoilage

    Directory of Open Access Journals (Sweden)

    Erica Tirloni

    2016-05-01

    Full Text Available Eighteen American lobsters (Homarus americanus, dead during air transport, were analysed in order to evaluate the microbial population of meat, gills and gut: no specific studies have ever been conducted so far on the microbiological quality of American lobsters’ meats in terms of spoilage microbiota. The meat samples showed very limited total viable counts, in almost all the cases below the level of 6 Log CFU/g, while higher loads were found, as expected, in gut and gills, the most probable source of contamination. These data could justify the possibility to commercialise these notsurviving subjects, without quality concerns for the consumers. Most of the isolates resulted to be clustered with type strains of Pseudoalteromonas spp. (43.1% and Photobacterium spp. (24.1%, and in particular to species related to the natural marine environment. The distribution of the genera showed a marked inhomogeneity among the samples. The majority of the isolates identified resulted to possess proteolytic (69.3% and lipolytic ability (75.5%, suggesting their potential spoilage ability. The maintanance of good hygienical practices, especially during the production of ready-to-eat lobsters-based products, and a proper storage could limit the possible replication of these microorganisms.

  18. American Lobsters (Homarus Americanus) not Surviving During Air Transport: Evaluation of Microbial Spoilage.

    Science.gov (United States)

    Tirloni, Erica; Stella, Simone; Gennari, Mario; Colombo, Fabio; Bernardi, Cristian

    2016-04-19

    Eighteen American lobsters ( Homarus americanus ), dead during air transport, were analysed in order to evaluate the microbial population of meat, gills and gut: no specific studies have ever been conducted so far on the microbiological quality of American lobsters' meats in terms of spoilage microbiota. The meat samples showed very limited total viable counts, in almost all the cases below the level of 6 Log CFU/g, while higher loads were found, as expected, in gut and gills, the most probable source of contamination. These data could justify the possibility to commercialise these not-surviving subjects, without quality concerns for the consumers. Most of the isolates resulted to be clustered with type strains of Pseudoalteromonas spp. (43.1%) and Photobacterium spp. (24.1%), and in particular to species related to the natural marine environment. The distribution of the genera showed a marked inhomogeneity among the samples. The majority of the isolates identified resulted to possess proteolytic (69.3%) and lipolytic ability (75.5%), suggesting their potential spoilage ability. The maintanance of good hygienical practices, especially during the production of ready-to-eat lobsters-based products, and a proper storage could limit the possible replication of these microorganisms.

  19. Assays for Detection and Identification of the Causative Agent of Mange in Free-Ranging Black Bears ( Ursus americanus).

    Science.gov (United States)

    Peltier, Sarah K; Brown, Justin D; Ternent, Mark A; Fenton, Heather; Niedringhaus, Kevin D; Yabsley, Michael J

    2018-03-02

    Three mite species ( Demodex ursi, Ursicoptes americanus, and Sarcoptes scabiei) have been associated with mange in black bears ( Ursus americanus). Since the early 1990s, the number and geographic distribution of mange cases in black bears in Pennsylvania has increased; however, the causative mites have yet to be completely defined. We evaluated several diagnostic approaches for detection and identification of mites in 72 black bears with severe lesions consistent with mange. Sarcoptes scabiei was morphologically identified in skin scrapes from 66 of the bears; no mites were identified in the remaining six. Histopathologic lesions consistent with sarcoptic mange were observed in 39 of 40 bear skin samples examined, and intralesional mites were observed in samples from 38 of these bears. Samples were collected from a subset of the 72 bears for PCR testing targeting both the internal transcribed spacer (ITS)-2 region and cytochrome c oxidase I ( cox1) gene including 69 skin scrapes ( ITS-2 only), 56 skin biopsies ( ITS-2 and cox1), and 36 fecal samples ( ITS-2 and cox1). Skin scrapes were a more sensitive sample for PCR detection than either skin biopsies or fecal samples, and the ITS-2 primers proved more sensitive than cox1. Using a commercial indirect enzyme-linked immunosorbent assay, antibodies to S. scabiei were detected in 45/49 (92%) black bears with confirmed mange and 0/62 (0%) cubs with no gross lesions suggestive of mange and which were born to seronegative sows. Sarcoptes scabiei was the predominant mite associated with mange in black bears in Pennsylvania. Diagnostically, cytologic examination of skin scrapes was the most effective approach for diagnosing active mite infestations in black bears. The evaluated serologic assay accurately detected antibodies to S. scabiei in most bears with confirmed S. scabiei infestations. Additional research is needed to determine the usefulness of this approach for larger scale surveys and for asymptomatic bears.

  20. Crystallization and preliminary X-ray analysis of Na-ASP-1, a multi-domain pathogenesis-related-1 protein from the human hookworm parasite Necator americanus

    International Nuclear Information System (INIS)

    Asojo, Oluwatoyin A.; Loukas, Alex; Inan, Mehmet; Barent, Rick; Huang, Jicai; Plantz, Brad; Swanson, Amber; Gouthro, Mark; Meagher, Michael M.; Hotez, Peter J.

    2005-01-01

    In order to clarify the structural basis of the pathogenesis-related-1 domain, Na-ASP-1, the first multi-domain ASP from the human hookworm parasite N. americanus, has been crystallized. 2.2 Å resolution data have been collected from a crystal belonging to the monoclinic space group P2 1 . Human hookworm infection is a major cause of anemia and malnutrition in the developing world. In an effort to control hookworm infection, the Human Hookworm Vaccine Initiative has identified candidate vaccine antigens from the infective larval stage (L3) of the parasite, including a family of pathogenesis-related-1 (PR-1) proteins known as the ancylostoma-secreted proteins (ASPs). The functions of the ASPs are unknown. In addition, it is unclear why some ASPs have one while others have multiple PR-1 domains. There are no known structures of a multi-domain ASP and in an effort to remedy this situation, recombinant Na-ASP-1 has been expressed, purified and crystallized. Na-ASP-1 is a 406-amino-acid multi-domain ASP from the prevalent human hookworm parasite Necator americanus. Useful X-ray data to 2.2 Å have been collected from a crystal that belongs to the monoclinic space group P2 1 with unit-cell parameters a = 67.7, b = 74.27, c = 84.60 Å, β = 112.12°. An initial molecular-replacement solution has been obtained with one monomer in the asymmetric unit

  1. Crystallization and preliminary X-ray analysis of Na-ASP-1, a multi-domain pathogenesis-related-1 protein from the human hookworm parasite Necator americanus

    Energy Technology Data Exchange (ETDEWEB)

    Asojo, Oluwatoyin A., E-mail: oasojo@unmc.edu [Eppley Institute for Research in Cancer and Allied Diseases, 987696 Nebraska Medical Center, Omaha, NE 68198-7696 (United States); Loukas, Alex [Department of Microbiology and Tropical Medicine, The George Washington University Medical Center, Washington DC 20037 (United States); Division of Infectious Diseases and Immunology, Queensland Institute of Medical Research, Brisbane, QLD 4006 (Australia); Inan, Mehmet; Barent, Rick; Huang, Jicai; Plantz, Brad; Swanson, Amber; Gouthro, Mark; Meagher, Michael M. [Department of Chemical Engineering, The University of Nebraska-Lincoln, Lincoln, NE 68588-0643 (United States); Hotez, Peter J. [Department of Microbiology and Tropical Medicine, The George Washington University Medical Center, Washington DC 20037 (United States); Eppley Institute for Research in Cancer and Allied Diseases, 987696 Nebraska Medical Center, Omaha, NE 68198-7696 (United States)

    2005-04-01

    In order to clarify the structural basis of the pathogenesis-related-1 domain, Na-ASP-1, the first multi-domain ASP from the human hookworm parasite N. americanus, has been crystallized. 2.2 Å resolution data have been collected from a crystal belonging to the monoclinic space group P2{sub 1}. Human hookworm infection is a major cause of anemia and malnutrition in the developing world. In an effort to control hookworm infection, the Human Hookworm Vaccine Initiative has identified candidate vaccine antigens from the infective larval stage (L3) of the parasite, including a family of pathogenesis-related-1 (PR-1) proteins known as the ancylostoma-secreted proteins (ASPs). The functions of the ASPs are unknown. In addition, it is unclear why some ASPs have one while others have multiple PR-1 domains. There are no known structures of a multi-domain ASP and in an effort to remedy this situation, recombinant Na-ASP-1 has been expressed, purified and crystallized. Na-ASP-1 is a 406-amino-acid multi-domain ASP from the prevalent human hookworm parasite Necator americanus. Useful X-ray data to 2.2 Å have been collected from a crystal that belongs to the monoclinic space group P2{sub 1} with unit-cell parameters a = 67.7, b = 74.27, c = 84.60 Å, β = 112.12°. An initial molecular-replacement solution has been obtained with one monomer in the asymmetric unit.

  2. Anaerobic oral flora in the North American black bear (Ursus americanus) in eastern North Carolina.

    Science.gov (United States)

    Clarke, Elsburgh O; Stoskopf, Michael K; Minter, Larry J; Stringer, Elizabeth M

    2012-06-01

    Microbial flora can provide insight into the ecology and natural history of wildlife in addition to improving understanding of health risks. This study examines the anaerobic oral flora of hunter killed black bears (Ursus americanus) in eastern North Carolina. Oral swabs from the buccal and lingual supragingival tooth surfaces of the first and second mandibular and maxillary molars of 22 black bears were inoculated onto Brucella Blood Agar plates supplemented with hemin and vitamin K after transport from the field using reduced oxoid nutrient broth. Sixteen anaerobic bacterial species, representing nine genera were identified using the RapID ANA II Micromethod Kit system and a number of organisms grown that could not be identified with the system. The most frequently identified anaerobes were Peptostreptococcus prevotii, Streptococcus constellatus, and Porphyromonas gingivalis. The diversity in the anaerobic oral flora of black bear in eastern North Carolina suggests the importance of including these organisms in basic health risk assessment protocols and suggests a potential tool for assessment of bear/habitat interactions. Copyright © 2012 Elsevier Ltd. All rights reserved.

  3. Bait and the susceptibility of American lobsters Homarus americanus to epizootic shell disease.

    Science.gov (United States)

    Bethoney, N David; Stokesbury, Kevin D E; Stevens, Bradley G; Altabet, Mark A

    2011-05-24

    Shell disease (SD) has been observed in lobster populations for almost a hundred years, but recently, rates of an epizootic form of shell disease (ESD) have increased in the southern New England (USA) area. A large proportion of fish in the diet of American lobsters Homarus americanus has been linked to increased rates of SD. Therefore, the use of fish as lobster bait may be linked to increased ESD rates in lobsters. Lobsters from the western portion of Martha's Vineyard, MA (41 degrees N, 71 degrees W), were randomly divided into 3 groups of 16 and exposed to dietary treatments (100% herring; 48% crab, 48% blue mussel and 4% plant matter; or 50% herring, 24% crab, 24% mussel, 2% plant matter) to determine if lobster tissue delta15N levels reflected diet. The results of the feeding experiment confirmed that differences in diet are observed in the delta15N levels of lobster muscle tissue. The delta15N levels of tissue samples from 175 wild lobsters with varying degrees of ESD were unrelated to ESD severity but did indicate lobsters were eating large amounts of fish (bait). This result does not support the speculation that fish used as bait is contributing to ESD outbreaks in portions of the southern New England area.

  4. Morphological Dependence of Element Stoichiometry in the H. americanus Exoskeleton

    Science.gov (United States)

    Mergelsberg, S. T.; Ulrich, R. N.; Dove, P. M.

    2016-02-01

    The crustacean exoskeleton is a complex biocomposite of inorganic mineral and organic macromolecules that expresses highly divergent morphologies across different taxa. While the structures and compositions of the organic framework show complex links to environmental and developmental pressures, little is known about the mineral chemistry. Previous studies of the cuticle have assumed that magnesium, phosphorous, and other trace metals are largely contained in the inorganic mineral fraction. Due to analytical limitations of structural analyses and in situ spectroscopic methods, the stoichiometry of the organic and inorganic portions could not be resolved. For example, previous Raman and XRD studies conclude the higher concentrations of trace elements, such as P and Mg measured in reinforced structures, e.g. the claw and abdomen, are primarily determined by the mineral fraction. Using the American Lobster (Homarus americanus) as a model organism to establish relationships between body part function and cuticle composition, this study quantified the distributions of Mg and P in the mineral and organic fractions. The experiments were designed to dissolve the exoskeleton of 10 body parts using three types of solutions that were specific to extracting 1) the mineral phase, 2) protein, and 3) polysaccharide. Analysis of the solutions by ICP-OES shows the mineral phase contains magnesium and phosphorous at concentrations sufficient to support the formation of calcium-magnesium and phosphate minerals. The protein fraction of the body parts contains significantly more Mg and P than previously hypothesized, while the levels of P contained in the organic portion are fairly constant. The findings demonstrate the lobster cuticle contains a significant amount of non-mineralized P and Mg that is readily water-soluble in the protein component. However, for those body parts used for defense and food acquisition, such as the claw, the mineral component determines the overall

  5. Cold-adapted digestive aspartic protease of the clawed lobsters Homarus americanus and Homarus gammarus: biochemical characterization.

    Science.gov (United States)

    Rojo, Liliana; García-Carreño, Fernando; de Los Angeles Navarrete del Toro, Maria

    2013-02-01

    Aspartic proteinases in the gastric fluid of clawed lobsters Homarus americanus and Homarus gammarus were isolated to homogeneity by single-step pepstatin-A affinity chromatography; such enzymes have been previously identified as cathepsin D-like enzymes based on their deduced amino acid sequence. Here, we describe their biochemical characteristics; the properties of the lobster enzymes were compared with those of its homolog, bovine cathepsin D, and found to be unique in a number of ways. The lobster enzymes demonstrated hydrolytic activity against synthetic and natural substrates at a wider range of pH; they were more temperature-sensitive, showed no changes in the K(M) value at 4°C, 10°C, and 25°C, and had 20-fold higher k(cat)/K(M) values than bovine enzyme. The bovine enzyme was temperature-dependent. We propose that both properties arose from an increase in molecular flexibility required to compensate for the reduction of reaction rates at low habitat temperatures. This is supported by the fast denaturation rates induced by temperature.

  6. Persistent Bovine Viral Diarrhea Virus infection in domestic and wild small ruminants and camelids including the mountain goat (Oreamnos americanus

    Directory of Open Access Journals (Sweden)

    Danielle Darracq Nelson

    2016-01-01

    Full Text Available Bovine viral diarrhea virus (BVDV is a Pestivirus best known for causing a variety of disease syndromes in cattle, including gastrointestinal disease, reproductive insufficiency, immunosuppression, mucosal disease, and hemorrhagic syndrome. The virus can be spread by transiently infected individuals and by persistently infected animals that may be asymptomatic while shedding large amounts of virus throughout their lifetime. BVDV has been reported in over 40 domestic and free-ranging species, and persistent infection has been described in eight of those species: white-tailed deer, mule deer, eland, mousedeer, mountain goats, alpacas, sheep, and domestic swine. This paper reviews the various aspects of BVDV transmission, disease syndromes, diagnosis, control, and prevention, as well as examines BVDV infection in domestic and wild small ruminants and camelids including mountain goats (Oreamnos americanus.

  7. Detecting genotyping errors and describing black bear movement in northern Idaho

    Science.gov (United States)

    Michael K. Schwartz; Samuel A. Cushman; Kevin S. McKelvey; Jim Hayden; Cory Engkjer

    2006-01-01

    Non-invasive genetic sampling has become a favored tool to enumerate wildlife. Genetic errors, caused by poor quality samples, can lead to substantial biases in numerical estimates of individuals. We demonstrate how the computer program DROPOUT can detect amplification errors (false alleles and allelic dropout) in a black bear (Ursus americanus) dataset collected in...

  8. The effects of hibernation and captivity on glucose metabolism and thyroid hormones in American black bear (Ursus americanus).

    Science.gov (United States)

    McCain, Stephanie; Ramsay, Ed; Kirk, Claudia

    2013-06-01

    American black bears (Ursus americanus) have been shown to become transiently insulin resistant and hypothyroid during winter, but no studies have investigated these changes in long-term captive bears or in bears which remain awake year-round. Wild, captive hibernating, and captive nonhibernating bears were evaluated at times corresponding to three of their major physiologic stages: fall (hyperphagic stage), winter (hibernation stage), and summer (normal activity stage). Combined insulin and glucose tolerance tests and thyroid hormone profiles were performed on all bears during each stage. All three groups of bears had evidence of insulin resistance during the winter, as compared to the summer or fall, based on glucose tolerance curves. Analysis of thyroid hormone concentration varied and distinct patterns or similarities were not apparent. While obesity in captive American black bears is multifactorial, the finding that, regardless of their ability to hibernate, captive bears retain similar physiology to their wild counterparts indicates that captive bears' complex physiologic changes need to be addressed in their management.

  9. Elevated expression of protein biosynthesis genes in liver and muscle of hibernating black bears (Ursus americanus).

    Science.gov (United States)

    Fedorov, Vadim B; Goropashnaya, Anna V; Tøien, Øivind; Stewart, Nathan C; Gracey, Andrew Y; Chang, Celia; Qin, Shizhen; Pertea, Geo; Quackenbush, John; Showe, Louise C; Showe, Michael K; Boyer, Bert B; Barnes, Brian M

    2009-04-10

    We conducted a large-scale gene expression screen using the 3,200 cDNA probe microarray developed specifically for Ursus americanus to detect expression differences in liver and skeletal muscle that occur during winter hibernation compared with animals sampled during summer. The expression of 12 genes, including RNA binding protein motif 3 (Rbm3), that are mostly involved in protein biosynthesis, was induced during hibernation in both liver and muscle. The Gene Ontology and Gene Set Enrichment analysis consistently showed a highly significant enrichment of the protein biosynthesis category by overexpressed genes in both liver and skeletal muscle during hibernation. Coordinated induction in transcriptional level of genes involved in protein biosynthesis is a distinctive feature of the transcriptome in hibernating black bears. This finding implies induction of translation and suggests an adaptive mechanism that contributes to a unique ability to reduce muscle atrophy over prolonged periods of immobility during hibernation. Comparing expression profiles in bears to small mammalian hibernators shows a general trend during hibernation of transcriptional changes that include induction of genes involved in lipid metabolism and carbohydrate synthesis as well as depression of genes involved in the urea cycle and detoxification function in liver.

  10. PROPAGACIÓN POR ESTACAS JUVENILES DEL BALSO BLANCO (Heliocarpus americanus L. Sin. H. popayanensis UTILIZANDO PROPAGADORES DE SUBIRRIGACIÓN PROPAGATION OF WHITE BALSUM (Heliocarpus americanus L. Sin. H. popayanensis CUTTINGS USING NONMIST PROPAGATORS

    Directory of Open Access Journals (Sweden)

    Carolina Vásquez Restrepo

    2006-12-01

    Full Text Available El mercado mundial de edulcorantes orgánicos es una oportunidad para la panela, producto básico de la canasta familiar que representa ingresos importantes para la población rural colombiana. El balso blanco (Heliocarpus americanus L. Sin. H. popayanensis Hook & Arn. es la especie más usada en procesos de clarificación de la panela en Antioquia y las zonas cañeras húmedas colombianas. Pero la extracción de la corteza de árboles obtenidos de la regeneración natural comienza a ser insostenible, por el daño causado a los individuos y la presión creciente a este recurso. La prohibición del uso de sustancias químicas en procesos de clarificación de panela ha aumentado la demanda de la corteza del balso blanco. En este trabajo se estimó el enraizamiento de estacas juveniles de balso blanco, por propagadores de subirrigación. Se realizaron dos experimentos, utilizando ácido anaftalenacético (ANA. En el primero se evaluó el efecto del transporte, cicatrizante y sustrato sobre el enraizamiento de las estacas de balso blanco. El mejor medio de transporte fue en cristales de hidrogel para mantener la humedad de las estacas, sin utilizar cicatrizante y sembrándolas en el sustrato tierra (55 % de enraizamiento. En el segundo se analizó la influencia de la intensidad lumínica y el área foliar en el porcentaje de enraizamiento de las estacas. El más alto enraizamiento se obtuvo con el tratamiento de doble sombra y un área foliar de 20 cm² (25 % de enraizamiento. Aunque los mejores resultados indican un relativo éxito en el uso de medios de enraizamiento, es una primera aproximación para propagar esta especie que necesita ser protegida.The world market of organic edulcorants is an opportunity for “panela”, a basic domestic consumption product that provides important income to rural population. White balsum (Heliocarpus americanus L. Sin. H. popayanensis Hook & Arn. is the most used species in the panela clarification processes in

  11. Adult hookworms (Necator spp.) collected from researchers working with wild western lowland gorillas

    Czech Academy of Sciences Publication Activity Database

    Kalousová, B.; Hasegawa, H.; Petrželková, Klára Judita; Sakamaki, T.; Kooriyma, T.; Modrý, David

    2016-01-01

    Roč. 9, FEB 9 (2016), č. článku 75. ISSN 1756-3305 Institutional support: RVO:60077344 Keywords : Necator spp * Necator gorillae * Necator americanus * hookworm * morphology * human infection Subject RIV: EB - Genetics ; Molecular Biology Impact factor: 3.080, year: 2016

  12. Grizzly bears (Ursus arctos horribilis) and black bears (Ursus americanus) prevent trabecular bone loss during disuse (hibernation).

    Science.gov (United States)

    McGee-Lawrence, Meghan E; Wojda, Samantha J; Barlow, Lindsay N; Drummer, Thomas D; Castillo, Alesha B; Kennedy, Oran; Condon, Keith W; Auger, Janene; Black, Hal L; Nelson, O Lynne; Robbins, Charles T; Donahue, Seth W

    2009-12-01

    Disuse typically causes an imbalance in bone formation and bone resorption, leading to losses of cortical and trabecular bone. In contrast, bears maintain balanced intracortical remodeling and prevent cortical bone loss during disuse (hibernation). Trabecular bone, however, is more detrimentally affected than cortical bone in other animal models of disuse. Here we investigated the effects of hibernation on bone remodeling, architectural properties, and mineral density of grizzly bear (Ursus arctos horribilis) and black bear (Ursus americanus) trabecular bone in several skeletal locations. There were no differences in bone volume fraction or tissue mineral density between hibernating and active bears or between pre- and post-hibernation bears in the ilium, distal femur, or calcaneus. Though indices of cellular activity level (mineral apposition rate, osteoid thickness) decreased, trabecular bone resorption and formation indices remained balanced in hibernating grizzly bears. These data suggest that bears prevent bone loss during disuse by maintaining a balance between bone formation and bone resorption, which consequently preserves bone structure and strength. Further investigation of bone metabolism in hibernating bears may lead to the translation of mechanisms preventing disuse-induced bone loss in bears into novel treatments for osteoporosis.

  13. Estrutura populacional e biologia reprodutiva de Menticirrhus americanus (Linnaeus, 1758 (Teleostei, Sciaenidae na baía de Ubatuba-Enseada, Santa Catarina, Brasil

    Directory of Open Access Journals (Sweden)

    Matheus Oliveira Freitas

    2011-01-01

    primeira maturação gonadal (L50 foi estimado em 16,7cm para fêmeas e 15,4cm para machos. O período reprodutivo ocorreu nas estações quentes, e a espécie apresentou desova múltipla. O índice hepatossomático apresentou variação sazonal similar à descrita para o índice gonadossomático, e pode ser considerado bom indicador da desova. O fator de condição não foi um bom indicador do período de desova, mas esteve relacionado com o processo de recuperação e maturação das gônadas. Características da dinâmica populacional mostraram que M. americanus utiliza a área de estudo para reprodução e recrutamento.

  14. Effects of cooking on levels of PCBs in the fillets of winter flounder (Pseudopleuronectes americanus)

    Energy Technology Data Exchange (ETDEWEB)

    Poston, T.M. [Pacific Northwest Lab., Richland, WA (United States); Durell, G.S.; Koczwara, G.; Spellacy, A.M. [Battelle Ocean Sciences, Duxbury, MA (United States)

    1995-08-01

    The Pacific Northwest Laboratory and Battelle Ocean Sciences performed a study to determine the effect of cooking on polychlorinated biphenyl (PCB) levels in the fillets of winter flounder (Pseudopleuronectes americanus). Broiling, pan frying, and deep frying in oil were tested on fillets from 21 fish collected from New Bedford Harbor, Massachusetts, on February 21, 1991. The evaluation involved estimating the change in PCB concentrations using a mass-balance approach that factored the change in fillet weight resulting from cooking with the changes in PCB concentration expressed on a precooked wet-weight basis. Deep frying in oil resulted in a 47% reduction in total PCB levels in fillet tissue. Additionally, deep frying caused a 40% reduction in fillet mass. Pan frying and broiling resulted in statistically in insignificant increases in total PCB levels of 15% and 17%, respectively. Fillet mass reductions resulting from pan frying and broiling were 7% and 15%, respectively. The effects of cooking on 18 individual congeners generally paralleled the results observed for total PCB. All 18 congeners were significantly reduced by deep frying. Congener Cl{sub 2}(08) also was significantly reduced by either pan frying. Congeners Cl{sub 5}(105) and Cl{sub 5}(118) showed apparent significant increases in concentrations following pan frying. Congeners Cl{sub 5}(105), Cl{sub 5}(118), and C1{sub 6}(138) showed significant increases in concentration following broiling.

  15. Serosurvey for selected pathogens in free-ranging American black bears (Ursus americanus) in Maryland, USA.

    Science.gov (United States)

    Bronson, Ellen; Spiker, Harry; Driscoll, Cindy P

    2014-10-01

    American black bears (Ursus americanus) in Maryland, USA, live in forested areas in close proximity to humans and their domestic pets. From 1999 to 2011, we collected 84 serum samples from 63 black bears (18 males; 45 females) in five Maryland counties and tested them for exposure to infectious, including zoonotic, pathogens. A large portion of the bears had antibody to canine distemper virus and Toxoplasma gondii, many at high titers. Prevalences of antibodies to zoonotic agents such as rabies virus and to infectious agents of carnivores including canine adenovirus and canine parvovirus were lower. Bears also had antibodies to vector-borne pathogens common to bears and humans such as West Nile virus, Borrelia burgdorferi, Rickettsia rickettsii, and Anaplasma phagocytophilum. Antibodies were detected to Leptospira interrogans serovars Pomona, Icterohaemorrhagiae, Canicola, Grippotyphosa, and Bratislava. We did not detect antibodies to Brucella canis or Ehrlichia canis. Although this population of Maryland black bears demonstrated exposure to multiple pathogens of concern for humans and domesticated animals, the low levels of clinical disease in this and other free-ranging black bear populations indicate the black bear is likely a spillover host for the majority of pathogens studied. Nevertheless, bear populations living at the human-domestic-wildlife interface with increasing human and domestic animal exposure should continue to be monitored because this population likely serves as a useful sentinel of ecosystem health.

  16. Rapid growth and genetic diversity retention in an isolated reintroduced black bear population in the central appalachians

    Science.gov (United States)

    Murphy, Sean M.; Cox, John J.; Clark, Joseph D.; Augustine, Benjamin J.; Hast, John T.; Gibbs, Dan; Strunk, Michael; Dobey, Steven

    2015-01-01

    Animal reintroductions are important tools of wildlife management to restore species to their historical range, and they can also create unique opportunities to study population dynamics and genetics from founder events. We used non-invasive hair sampling in a systematic, closed-population capture-mark-recapture (CMR) study design at the Big South Fork (BSF) area in Kentucky during 2010 and Tennessee during 2012 to estimate the demographic and genetic characteristics of the black bear (Ursus americanus) population that resulted from a reintroduced founding population of 18 bears in 1998. We estimated 38 (95% CI: 31–66) and 190 (95% CI: 170–219) bears on the Kentucky and Tennessee study areas, respectively. Based on the Tennessee abundance estimate alone, the mean annual growth rate was 18.3% (95% CI: 17.4–19.5%) from 1998 to 2012. We also compared the genetic characteristics of bears sampled during 2010–2012 to bears in the population during 2000–2002, 2–4 years following reintroduction, and to the source population. We found that the level of genetic diversity since reintroduction as indicated by expected heterozygosity (HE) remained relatively constant (HE(source, 2004) = 0.763, HE(BSF, 2000–2002) = 0.729, HE(BSF, 2010–2012) = 0.712) and the effective number of breeders (NB) remained low but had increased since reintroduction in the absence of sufficient immigration (NB(BSF, 2000–2002) = 12, NB(BSF, 2010–2012)  = 35). This bear population appears to be genetically isolated, but contrary to our expectations, we did not find evidence of genetic diversity loss or other deleterious genetic effects typically observed from small founder groups. We attribute that to high initial genetic diversity in the founder group combined with overlapping generations and rapid population growth. Although the population remains relatively small, the reintroduction using a small founder group appears to be demographically and genetically

  17. Identification and phylogenetic analysis of Dirofilaria ursi (Nematoda: Filarioidea) from Wisconsin black bears (Ursus americanus) and its Wolbachia endosymbiont.

    Science.gov (United States)

    Michalski, Michelle L; Bain, Odile; Fischer, Kerstin; Fischer, Peter U; Kumar, Sanjay; Foster, Jeremy M

    2010-04-01

    Dirofilaria ursi is a filarial nematode of American black bears (Ursus americanus Pallas, 1780) that is vectored by black flies (Simuliidae) in many parts of the United States. In northwestern Wisconsin, the prevalence of microfilaremic bears during the fall hunting season was 21% (n = 47). Unsheathed blood microfilariae from Wisconsin bears possess characters consistent with the original description of D. ursi, as do adult worms observed histologically and grossly. Immunohistochemistry was used to identify the Wolbachia endosymbiont in the hypodermis and lateral cords of an adult female D. ursi. Amplification of wsp, gatB, coxA, fbpA, and ftsZ bacterial sequences from parasite DNA confirmed the presence of Wolbachia, and molecular phylogenetic analysis of the Wolbachia ftsZ gene groups the endosymbiont with Wolbachia from D. immitis and D. repens. Phylogenetic analysis of D. ursi 5s rDNA sequence confirms the morphological observations grouping this parasite as a member of Dirofilaria, and within the Dirofilaria - Onchocerca clade of filarial nematodes. This is the first report of Wolbachia characterization and molecular phylogeny information for D. ursi.

  18. Low-salinity stress in the American lobster, Homarus americanus, after chronic sublethal exposure to cadmium: Biochemical effects

    Energy Technology Data Exchange (ETDEWEB)

    Gould, E

    1980-01-01

    Lobsters (Homarus americanus) were exposed to cadmium (6 ..mu..g 1sup(-1), 30 days) in flowing seawater, then held for 7 days in aerated 'clean' seawater at either ambient (27 per mill) or low (17 per mill) salinity. Cadmium exposure alone (ambient salinity) induced a general elevation of enzyme activity (heart, antennal gland, and muscle MDH; heart LDH and GPI), despite the probability of some clearance of cadmium from body tissues during the 'clean' seawater holding period. Low-salinity alone (non-exposed lobsters) caused a decrease of enzyme activity (AAT, LDH, GPI, PK) in most tissues examined, except for tail muscle IDH, the activity of which was increased, and MDH, which was significantly elevated above ambient controls in all tissues except heart. Most low-salinity effects were observed in tail muscle, and most cadmium effects, in heart; low-salinity effects outnumbered cadmium stress by nine to four. In heart and tail muscle of cadmium-exposed lobsters held at low salinity, each of the two stresses apparently operated to nullify the other's effects. The most prominent single biochemical response to these sublethal stresses was the elevation of MDH activity. The ratio MDH:LDH gave the clearest indication of overall relative stress.

  19. Two crystal forms of a helix-rich fatty acid- and retinol-binding protein, Na-FAR-1, from the parasitic nematode Necator americanus

    International Nuclear Information System (INIS)

    Gabrielsen, Mads; Rey-Burusco, M. Florencia; Griffiths, Kate; Roe, Andrew J.; Cooper, Alan; Smith, Brian O.; Kennedy, Malcolm W.; Corsico, Betina

    2012-01-01

    Na-FAR-1, a fatty acid- and retinol-binding protein, was expressed in bacteria, purified and crystallized. Crystals grew in two different morphologies under the same conditions. Na-FAR-1 is an unusual α-helix-rich fatty acid- and retinol-binding protein from Necator americanus, a blood-feeding intestinal parasitic nematode of humans. It belongs to the FAR protein family, which is unique to nematodes; no structural information is available to date for FAR proteins from parasites. Crystals were obtained with two different morphologies that corresponded to different space groups. Crystal form 1 exhibited space group P432 (unit-cell parameters a = b = c = 120.80 Å, α = β = γ = 90°) and diffracted to 2.5 Å resolution, whereas crystal form 2 exhibited space group F23 (unit-cell parameters a = b = c = 240.38 Å, α = β = γ = 90°) and diffracted to 3.2 Å resolution. Crystal form 2 showed signs of significant twinning

  20. Isolation and genetic characterization of Toxoplasma gondii from black bears (Ursus americanus), bobcats (Felis rufus), and feral cats (Felis catus) from Pennsylvania

    Science.gov (United States)

    Toxoplasma gondii infects virtually all warm-blooded hosts worldwide. Recently, attention has been focused on the genetic diversity of the parasite to explain its pathogenicity in different hosts. It has been hypothesized that interaction between feral and domestic cycles of T. gondii may increase u...

  1. Structural and functional characterization of a multifunctional alanine-rich peptide analogue from Pleuronectes americanus.

    Directory of Open Access Journals (Sweden)

    Ludovico Migliolo

    Full Text Available Recently, defense peptides that are able to act against several targets have been characterized. The present work focuses on structural and functional evaluation of the peptide analogue Pa-MAP, previously isolated as an antifreeze peptide from Pleuronectes americanus. Pa-MAP showed activities against different targets such as tumoral cells in culture (CACO-2, MCF-7 and HCT-116, bacteria (Escherichia coli ATCC 8739 and Staphylococcus aureus ATCC 25923, viruses (HSV-1 and HSV-2 and fungi (Candida parapsilosis ATCC 22019, Trichophyton mentagrophytes (28d&E and T. rubrum (327. This peptide did not show toxicity against mammalian cells such as erythrocytes, Vero and RAW 264.7 cells. Molecular mechanism of action was related to hydrophobic residues, since only the terminal amino group is charged at pH 7 as confirmed by potentiometric titration. In order to shed some light on its structure-function relations, in vitro and in silico assays were carried out using circular dichroism and molecular dynamics. Furthermore, Pa-MAP showed partial unfolding of the peptide changes in a wide pH (3 to 11 and temperature (25 to 95°C ranges, although it might not reach complete unfolding at 95°C, suggesting a high conformational stability. This peptide also showed a conformational transition with a partial α-helical fold in water and a full α-helical core in SDS and TFE environments. These results were corroborated by spectral data measured at 222 nm and by 50 ns dynamic simulation. In conclusion, data reported here show that Pa-MAP is a potential candidate for drug design against pathogenic microorganisms due to its structural stability and wide activity against a range of targets.

  2. A new PCR-based method shows that blue crabs (Callinectes sapidus (Rathbun)) consume winter flounder (Pseudopleuronectes americanus (Walbaum)).

    Science.gov (United States)

    Collier, Jackie L; Fitzgerald, Sean P; Hice, Lyndie A; Frisk, Michael G; McElroy, Anne E

    2014-01-01

    Winter flounder (Pseudopleuronectes americanus) once supported robust commercial and recreational fisheries in the New York (USA) region, but since the 1990s populations have been in decline. Available data show that settlement of young-of-the-year winter flounder has not declined as sharply as adult abundance, suggesting that juveniles are experiencing higher mortality following settlement. The recent increase of blue crab (Callinectes sapidus) abundance in the New York region raises the possibility that new sources of predation may be contributing to juvenile winter flounder mortality. To investigate this possibility we developed and validated a method to specifically detect winter flounder mitochondrial control region DNA sequences in the gut contents of blue crabs. A survey of 55 crabs collected from Shinnecock Bay (along the south shore of Long Island, New York) in July, August, and September of 2011 showed that 12 of 42 blue crabs (28.6%) from which PCR-amplifiable DNA was recovered had consumed winter flounder in the wild, empirically supporting the trophic link between these species that has been widely speculated to exist. This technique overcomes difficulties with visual identification of the often unrecognizable gut contents of decapod crustaceans, and modifications of this approach offer valuable tools to more broadly address their feeding habits on a wide variety of species.

  3. First evidence for slave rebellion: enslaved ant workers systematically kill the brood of their social parasite protomognathus americanus.

    Science.gov (United States)

    Achenbach, Alexandra; Foitzik, Susanne

    2009-04-01

    During the process of coevolution, social parasites have evolved sophisticated strategies to exploit the brood care behavior of their social hosts. Slave-making ant queens invade host colonies and kill or eject all adult host ants. Host workers, which eclose from the remaining brood, are tricked into caring for the parasite brood. Due to their high prevalence and frequent raids, following which stolen host broods are similarly enslaved, slave-making ants exert substantial selection upon their hosts, leading to the evolution of antiparasite adaptations. However, all host defenses shown to date are active before host workers are parasitized, whereas selection was thought to be unable to act on traits of already enslaved hosts. Yet, here we demonstrate the rebellion of enslaved Temnothorax workers, which kill two-thirds of the female pupae of the slave-making ant Protomognathus americanus. Thereby, slaves decrease the long-term parasite impact on surrounding related host colonies. This novel antiparasite strategy of enslaved workers constitutes a new level in the coevolutionary battle after host colony defense has failed. Our discovery is analogous to recent findings in hosts of avian brood parasites where perfect mimicry of parasite eggs leads to the evolution of chick recognition as a second line of defense.

  4. Distribution and quantification of Candidatus Liberibacter americanus, agent of huanglongbing disease of citrus in São Paulo State, Brasil, in leaves of an affected sweet orange tree as determined by PCR.

    Science.gov (United States)

    Teixeira, Diva C; Saillard, Colette; Couture, Carole; Martins, Elaine C; Wulff, Nelson A; Eveillard-Jagoueix, Sandrine; Yamamoto, Pedro T; Ayres, Antonio J; Bové, Joseph M

    2008-06-01

    Huanglongbing (HLB), an insect-transmitted disease of citrus, known for many years in Asia and Africa, has appeared in the state of São Paulo State (SSP), Brazil, in 2004, and the state of Florida, USA, in 2005. HLB endangers the very existence of citrus, as trees infected with the bacterial pathogen, irrevocably decline. In the absence of curative procedures, control of HLB is difficult and only based on prevention. Even though not available in culture, the HLB bacterium could be shown to be Gram-negative and to represent a new candidate genus, Candidatus Liberibacter, in the alpha subdivision of the Proteobacteria. Three Candidatus (Ca.) L. species occur: Ca. L. africanus in Africa, Ca. L. asiaticus in Asia, SSP, and Florida, and Ca. L. americanus in SSP. The liberibacters occur exclusively in the phloem sieve tubes. On affected trees, HLB symptoms are often seen on certain branches only, suggesting an uneven distribution of the Liberibacter. Occurrence of Ca. L. americanus, the major HLB agent in SSP, has been examined in 822 leaf samples from an affected sweet orange tree by two conventional PCR techniques and a newly developed real time (RTi) PCR, also used for quantification of the Liberibacter in the leaves. Even though RTi-PCR was able to detect as few as 10 liberibacters per gram of leaf tissue (l/g), no liberibacters could be detected in any of the many leaf samples from a symptomless branch, while in blotchy mottle leaves from symptomatic branches of the same tree, the Liberibacter titer reached values as high as 10(7)l/g. These results demonstrate the uneven distribution of the Liberibacter in HLB-affected trees.

  5. Blood lipid concentrations and lipoprotein patterns in captive and wild American black bears (Ursus americanus).

    Science.gov (United States)

    Frank, Nicholas; Elliott, Sarah B; Allin, Shawn B; Ramsay, Edward C

    2006-02-01

    To compare blood lipid concentrations and lipoprotein patterns for captive and wild American black bears (Ursus americanus). 7 captive and 9 wild adult (> or = 4 years old) black bears. Blood was collected from 2 groups of captive black bears (groups A and B) and 1 group of wild black bears (group C). Blood triglyceride (TG) and cholesterol concentrations were compared among groups. Plasma lipoproteins were isolated by use of a self-generating gradient of iodixanol, and lipoprotein patterns were compared between groups A and B. Captive bears (mean +/- SD, 187.8 +/- 44.4 kg) weighed significantly more than wild bears (mean, 104.8 +/- 41.4 kg), but mean body weight did not differ between groups A and B. Mean blood TG concentrations for groups B (216.8 +/- 16.0 mg/dL) and C (190.7 +/- 34.0 mg/dL) were significantly higher than that of group A (103.9 +/- 25.3 mg/dL). Mean blood cholesterol concentration was also significantly higher for group B (227.8 +/- 8.2 mg/dL) than for groups A (171.7 +/- 35.5 mg/dL) or C (190.8 +/- 26.8 mg/dL). Mean very-low-density lipoprotein TG and low-density lipoprotein cholesterol concentrations were 2- and 3-fold higher, respectively, for group B, compared with concentrations for group A. Blood lipid concentrations vary significantly among populations of black bears. Plasma lipoprotein patterns of captive bears differed significantly between colonies and may have reflected differences in diet or management practices.

  6. Induced resistance to infection of lobsters Homarus americanus by Aerococcus viridans (var.) homari, the bacterium causing gaffkemia.

    Science.gov (United States)

    Stewart, James E; Arie, B; Marks, L J

    2004-12-13

    A vaccine composed of steam sterilized (autoclaved) cells of a virulent strain of Aerococcus viridans (var.) homari was effective in protecting lobsters Homarus americanus against gaffkemia. At 15 degrees C the heat-killed vaccines (HKV) at concentrations between 1 and 5 x 10(7) particles kg(-1) lobster body wt induced maximal protection in induction periods ranging from 7 to 11 d. Protection was substantial over the course of a 30 d post-induction trial period. Spring-caught lobsters (i.e. those more fully rehabilitated following ecdysis) gained more protection (LD50 = 1.9 x 10(4)) from the vaccination than did those caught in the late fall-early winter period (lobsters that were not yet fully recovered from ecdysis) (LD50 = 3.2 x 10(3)). The protection offered by the HK vaccine was comparable to that induced by a vaccine produced by incubating the pathogen with low concentrations (2 pg ml(-1)) of the antibiotic vancomycin. The bacterins produced by both methods exhibited similar new properties: (1) agglutination at low titres by lobster hemolymph serum, suggesting an impaired capsule layer, and (2) increased permeability to the large Alcian Blue molecule. With both vaccines, the protection may be a direct result of increased exposure to intact bacterial cell structures by the lobster defences, an exposure which otherwise would be prevented by an intact capsule.

  7. First report of piscine nodavirus infecting wild winter flounder Pleuronectes americanus in Passamaquoddy Bay, New Brunswick, Canada.

    Science.gov (United States)

    Barke, Duane E; MacKinnon, Ann-Margaret; Boston, Linda; Burt, Michael D B; Cone, David K; Speare, David J; Griffiths, Steve; Cook, Marcia; Ritchie, Rachael; Olivier, Gilles

    2002-05-10

    Piscine nodaviruses (Betanodaviridae) are frequently reported from a variety of cultured and wild finfishes. These non-enveloped, single-stranded RNA virions cause viral encephalopathy and retinopathy (VER), also known as viral nervous necrosis (VNN) or fish encephalitis. Recently, nodavirus infections have posed serious problems for larval and juvenile cultured halibut Hippoglossus hippoglossus in Norway and Scotland. To date, no such viruses have been described from any cultured or wild pleuronectid in Atlantic Canada. Obviously, there exists a need to survey wild populations of pleuronectids to assess the risk of potential transfer of nodavirus from wild to caged fishes. This paper presents the results of monthly surveys (April 2000 to March 2001) of viruses from wild winter flounder Pleuronectes americanus collected from Passamaquoddy Bay, New Brunswick, Canada. Tissue samples from wild flounder were screened initially on commercial cell lines (EPC, SSN-1, SHK and CHSE-214) for any evidence of cytopathic effect (CPE). After confirmation of CPE, nodavirus identification was achieved using reverse transcription polymerase chain reaction (RT-PCR) analysis. We detected nodavirus from only 1 out of 440 flounder (0.23%) examined. This is the first report of piscine nodavirus isolated from wild winter flounder in Atlantic Canada, and although this prevalence may seem low, we discuss the implications of this finding for Canada's emerging halibut aquaculture industry.

  8. Influence of natural inshore and offshore thermal regimes on egg development and time of hatch in American lobsters, Homarus americanus.

    Science.gov (United States)

    Goldstein, Jason S; Watson, Winsor H

    2015-02-01

    Some egg-bearing (ovigerous) American lobsters (Homarus americanus) make seasonal inshore-to-offshore movements, subjecting their eggs to different thermal regimes than those of eggs carried by lobsters that do not make these movements. Our goal was to determine if differences in thermal regimes influence the rate of egg development and the subsequent time of hatch. We subjected ovigerous lobsters to typical inshore or offshore water temperatures from September to August in the laboratory (n=8 inshore and 8 offshore, each year) and in the field (n=8 each, inshore and offshore), over 2 successive years. Although the rate of egg development did not differ significantly between treatments in the fall (P∼0.570), eggs exposed to inshore thermal regimes developed faster in the spring (Plobsters exposed to offshore thermal regimes accumulated more GDD in the winter than did eggs carried by inshore lobsters, while eggs exposed to inshore temperatures acquired them more rapidly in the spring. Results suggest that seasonal movements of ovigerous lobsters influence the time and location of hatching, and thus the transport and recruitment of larvae to coastal and offshore locations. © 2015 Marine Biological Laboratory.

  9. Tainting and depuration of taint by lobsters (Homarus americanus) exposed to water contaminated with a No.2 Fuel Oil: Relationship with aromatic hydrocarbon content in tissue

    International Nuclear Information System (INIS)

    Williams, U.P.; Kiceniuk, J.W.; Fancey, L.L.; Botta, J.R.

    1989-01-01

    Lobsters (Homarus americanus) were exposed to a pulse of diesel oil and held for 21 days to depurate. Taste panels revealed a highly significant difference between samples, as well as a preferences for, the untreated samples at days 10 and 11. The odor of the raw treated samples differed significantly from that of the control at each of the sampling times. Cooking appeared to remove the oily odor from the raw lobster. Significantly elevated concentrations of total aromatics were found in the hepatopancreas of both sexes at days 3-4 and 10-11 and in the tail muscle of male and female lobsters 10-11 days after initial exposure and decreased thereafter. Tainting of lobsters can occur within 10 days of exposure to diesel, and this effect can be reversed within 20 days after initial exposure

  10. Detection of human bacterial pathogens in ticks collected from Louisiana black bears (Ursus americanus luteolus).

    Science.gov (United States)

    Leydet, Brian F; Liang, Fang-Ting

    2013-04-01

    There are 4 major human-biting tick species in the northeastern United States, which include: Amblyomma americanum, Amblyomma maculatum, Dermacentor variabilis, and Ixodes scapularis. The black bear is a large mammal that has been shown to be parasitized by all the aforementioned ticks. We investigated the bacterial infections in ticks collected from Louisiana black bears (Ursus americanus subspecies luteolus). Eighty-six ticks were collected from 17 black bears in Louisiana from June 2010 to March 2011. All 4 common human-biting tick species were represented. Each tick was subjected to polymerase chain reaction (PCR) targeting select bacterial pathogens and symbionts. Bacterial DNA was detected in 62% of ticks (n=53). Rickettsia parkeri, the causative agent of an emerging spotted fever group rickettsiosis, was identified in 66% of A. maculatum, 28% of D. variabilis, and 11% of I. scapularis. The Lyme disease bacterium, Borrelia burgdorferi, was detected in 2 I. scapularis, while one A. americanum was positive for Borrelia bissettii, a putative human pathogen. The rickettsial endosymbionts Candidatus Rickettsia andeanae, rickettsial endosymbiont of I. scapularis, and Rickettsia amblyommii were detected in their common tick hosts at 21%, 39%, and 60%, respectively. All ticks were PCR-negative for Anaplasma phagocytophilum, Ehrlichia spp., and Babesia microti. This is the first reported detection of R. parkeri in vector ticks in Louisiana; we also report the novel association of R. parkeri with I. scapularis. Detection of both R. parkeri and B. burgdorferi in their respective vectors in Louisiana demands further investigation to determine potential for human exposure to these pathogens. Copyright © 2013 Elsevier GmbH. All rights reserved.

  11. Ticks and tick-borne pathogens and putative symbionts of black bears (Ursus americanus floridanus) from Georgia and Florida.

    Science.gov (United States)

    Yabsley, Michael J; Nims, Todd N; Savage, Mason Y; Durden, Lance A

    2009-10-01

    Ticks were collected from 38 black bears (Ursus americanus floridanus) from northwestern Florida (n = 18) from 2003 to 2005 and southern Georgia (n = 20) in 2006. Five species (Amblyomma americanum, A. maculatum, Dermacentor variabilis, Ixodes scapularis, and I. affinis) were collected from Florida bears, and 4 species (A. americanum, A. maculatum, D. variabilis, I. scapularis) were collected from bears in Georgia. Ixodes scapularis was the most frequently collected tick, followed by D. variabilis, A. americanum, A. maculatum, and I. affinis. The collection of I. affinis from a Florida bear represents a new host record. A subset of ticks was screened for pathogens and putative symbionts by polymerase chain reaction (PCR). The zoonotic tick-borne pathogens Ehrlichia chaffeensis and Rickettsia parkeri were detected in 1 of 23 (4.3%) A. americanum and 1 of 12 (8.3%) A. maculatum, respectively. The putative zoonotic pathogen "Rickettsia amblyommii" was detected in 4 (17.4%) A. americanum and 1 (8.3%) A. maculatum. Other putative symbiotic rickettsiae detected included R. bellii and R. montanensis in D. variabilis, a Rickettsia cooleyi-like sp. and Rickettsia sp. Is-1 in I. scapularis, and Rickettsia TR39-like sp. in I. scapularis and A. americanum. All ticks were PCR-negative for Anaplasma phagocytophilum, Panola Mountain Ehrlichia sp., E. ewingii, Francisella tularensis, and Borrelia spp.

  12. Incorporating Road Crossing Data into Vehicle Collision Risk Models for Moose (Alces americanus) in Massachusetts, USA.

    Science.gov (United States)

    Zeller, Katherine A; Wattles, David W; DeStefano, Stephen

    2018-05-09

    Wildlife-vehicle collisions are a human safety issue and may negatively impact wildlife populations. Most wildlife-vehicle collision studies predict high-risk road segments using only collision data. However, these data lack biologically relevant information such as wildlife population densities and successful road-crossing locations. We overcome this shortcoming with a new method that combines successful road crossings with vehicle collision data, to identify road segments that have both high biological relevance and high risk. We used moose (Alces americanus) road-crossing locations from 20 moose collared with Global Positioning Systems as well as moose-vehicle collision (MVC) data in the state of Massachusetts, USA, to create multi-scale resource selection functions. We predicted the probability of moose road crossings and MVCs across the road network and combined these surfaces to identify road segments that met the dual criteria of having high biological relevance and high risk for MVCs. These road segments occurred mostly on larger roadways in natural areas and were surrounded by forests, wetlands, and a heterogenous mix of land cover types. We found MVCs resulted in the mortality of 3% of the moose population in Massachusetts annually. Although there have been only three human fatalities related to MVCs in Massachusetts since 2003, the human fatality rate was one of the highest reported in the literature. The rate of MVCs relative to the size of the moose population and the risk to human safety suggest a need for road mitigation measures, such as fencing, animal detection systems, and large mammal-crossing structures on roadways in Massachusetts.

  13. Ranking harbours in the maritime provinces of Canada for potential to contaminate American lobster (Homarus americanus) with polycyclic aromatic hydrocarbons

    Energy Technology Data Exchange (ETDEWEB)

    Prouse, N.J.

    1994-01-01

    Polycyclic aromatic hydrocarbons (PAHs) comprise a suite of contaminants that enter the marine environment through a variety of natural and anthropogenic sources. PAHs, including carcinogenic compounds, bioaccumulate in the tissues of exposed American lobsters (Homarus americanus). High PAH concentrations in lobster tissues necessitated the closure of the lobster fishery in the South Arm of Sydney Harbour, Nova Scotia, in 1982. A study was conducted to assess harbors in Nova Scotia, New Brunswick, and Prince Edward Island to determine if there might be a reason for concern about PAH contamination of lobsters. Adjacent commercial and industrial activity, harbor uses, the surrounding population, and PAH point sources were evaluated for each harbor selected for study. Areas of lobster fishing and the number of permanent lobster holding facilities within each harbor were also determined. Harbors were then ranked according to their potential for PAH contamination. Point sources for PAHs within these harbors included petroleum and coal products plants, oil refineries, chemical plants, coal-fired generating stations, and fuel combustion in land vehicles and ships. After Sydney, the harbors with the highest potential for PAH contamination were determined to be Halifax, Saint John, Pictou, and Port Hawkesbury Ship Harbour. 60 refs., 15 figs., 7 tabs.

  14. Consequences of severe habitat fragmentation on density, genetics, and spatial capture-recapture analysis of a small bear population.

    Directory of Open Access Journals (Sweden)

    Sean M Murphy

    Full Text Available Loss and fragmentation of natural habitats caused by human land uses have subdivided several formerly contiguous large carnivore populations into multiple small and often isolated subpopulations, which can reduce genetic variation and lead to precipitous population declines. Substantial habitat loss and fragmentation from urban development and agriculture expansion relegated the Highlands-Glades subpopulation (HGS of Florida, USA, black bears (Ursus americanus floridanus to prolonged isolation; increasing human land development is projected to cause ≥ 50% loss of remaining natural habitats occupied by the HGS in coming decades. We conducted a noninvasive genetic spatial capture-recapture study to quantitatively describe the degree of contemporary habitat fragmentation and investigate the consequences of habitat fragmentation on population density and genetics of the HGS. Remaining natural habitats sustaining the HGS were significantly more fragmented and patchier than those supporting Florida's largest black bear subpopulation. Genetic diversity was low (AR = 3.57; HE = 0.49 and effective population size was small (NE = 25 bears, both of which remained unchanged over a period spanning one bear generation despite evidence of some immigration. Subpopulation density (0.054 bear/km2 was among the lowest reported for black bears, was significantly female-biased, and corresponded to a subpopulation size of 98 bears in available habitat. Conserving remaining natural habitats in the area occupied by the small, genetically depauperate HGS, possibly through conservation easements and government land acquisition, is likely the most important immediate step to ensuring continued persistence of bears in this area. Our study also provides evidence that preferentially placing detectors (e.g., hair traps or cameras primarily in quality habitat across fragmented landscapes poses a challenge to estimating density-habitat covariate relationships using spatial

  15. PREVALENCE OF BABESIA SPP., EHRLICHIA SPP., AND TICK INFESTATIONS IN OKLAHOMA BLACK BEARS (URSUS AMERICANUS).

    Science.gov (United States)

    Skinner, Delaina; Mitcham, Jessica R; Starkey, Lindsay A; Noden, Bruce H; Fairbanks, W Sue; Little, Susan E

    2017-10-01

    American black bears (Ursus americanus) are commonly infested with ticks throughout their range, but there are few surveys for tick-borne disease agents in bears. To characterize tick infestations and determine the prevalence of current infection with Babesia spp. and past or current infection with Ehrlichia spp. in newly re-established populations of black bears in east central and southeastern Oklahoma, US, we identified adult (n=1,048) and immature (n=107) ticks recovered from bears (n=62). We evaluated serum and whole blood samples from a subset (n=49) for antibodies reactive to, and characteristic DNA fragments of, Ehrlichia spp., as well as characteristic DNA fragments of Babesia spp. Amblyomma americanum, the most common tick identified, was found on a majority (56/62; 90%) of bears and accounted for 697/1,048 (66.5%) of all ticks recovered. Other ticks included Dermacentor variabilis (338/1,048; 32.3%) from 36 bears, Amblyomma maculatum (9/1,048; 0.9%) from three bears, and Ixodes scapularis (4/1,048; 0.4%) from three bears. Antibodies reactive to Ehrlichia spp. were detected in every bear tested (49/49; 100%); maximum inverse titers to Ehrlichia chaffeensis ranged from 64-4,096 (geometric mean titer 1,525). However, PCR failed to identify active infection with E. chaffeensis, Ehrlichia ewingii, or an Ehrlichia ruminantium-like agent. Infection with Babesia spp. was detected by PCR in 3/49 (6%) bears. Together these data confirm that tick infestations and infection with tick-borne disease agents are common in bears in the southern US. The significance of these infestations and infections to the health of bears, if any, and the identity of the Ehrlichia spp. responsible for the antibody reactivity seen, warrant further evaluation.

  16. Evaluation of Mechanical Properties and Marginal Fit of Crowns Fabricated Using Commercially Pure Titanium and FUS-Invest

    Directory of Open Access Journals (Sweden)

    Jinshuang Wu

    2017-01-01

    Full Text Available This study investigated the mechanical properties and single crown accuracy of the tailor-made Fourth University Stomatology investment (FUS-invest for casting titanium. Background. Current investment for casting titanium is not optimal for obtaining high-quality castings, and the commercially available titanium investment is costly. Methods. Titanium specimens were cast using the tailor-made FUS-invest. The mechanical properties were tested using a universal testing machine. Fractured castings were characterized by energy-dispersive spectroscopy. 19 titanium crowns were produced using FUS-invest and another 19 by Symbion. The accuracy of crowns was evaluated. Results. The mechanical properties of the titanium cast by FUS-invest were elastic modulus 125.6 ± 8.8 GPa, yield strength 567.5 ± 11.1 MPa, tensile strength 671.2 ± 15.6 MPa, and elongation 4.6 ± 0.2%. For marginal fit, no significant difference (P>0.05 was found at four marker points of each group. For internal fit, no significant difference (P>0.05 was found between two groups, whereas significant difference (P<0.01 was found at different mark point of each group. Conclusions. The mechanical properties of titanium casted using FUS-invest fulfilled the ISO 9693 criteria. The marginal and internal fit of the titanium crowns using either the FUS-invest or Symbion were similar.

  17. Sex, Diet, and the Social Environment: Factors Influencing Hair Cortisol Concentration in Free-Ranging Black Bears (Ursus americanus).

    Science.gov (United States)

    Lafferty, Diana J R; Laudenslager, Mark L; Mowat, Garth; Heard, Doug; Belant, Jerrold L

    2015-01-01

    Increasingly, measures of glucocorticoid levels (e.g., cortisol), key components of the neuroendocrine stress axis, are being used to measure past hypothalamic-pituitary-adrenal (HPA) activity to index psychological and physiological stress exhibited by wildlife for assessing individual and population-level well-being. However, many intrinsic and extrinsic factors affect HPA activity in animals. Using American black bears (Ursus americanus; n = 116) as an ecological model and hair cortisol concentration (HCC) as an integrative measure of past HPA activity, we evaluated the influence of diet, sex and the social environment on black bear HCC in a free-ranging population that spanned adjoining ecoregions with differing densities of potential conspecific and heterospecific competitors. HCC varied by sex, with female HCC ranging from 0.6 to 10.7 pg/mg (median = 4.5 ± 1.2 mean absolute deviation [MAD]) and male HCC ranging from 0.5 to 35.1 pg/mg (median = 6.2 ± 2.6 MAD). We also observed a three-way interaction among sex, δ14C and ecoregion, which may indicate that some differences in HCC between female and male black bears results from variability in the nutritional needs of larger-bodied males relative to smaller-bodied females, slight differences in food resources use between ecoregions as well as sex-based differences regarding the social environment. Once we understand what drives sex-specific differences in HCC, HCC may aid our understanding of the physiological responses by bears and other wildlife to diverse environmental challenges.

  18. Influence of drilling muds on the primary chemosensory neurons in walking legs of the lobster, Homarus americanus

    Energy Technology Data Exchange (ETDEWEB)

    Derby, C D; Atema, J

    1981-01-01

    The effects of whole drilling muds on the normal activity of walking leg chemosensory neurons of the lobster, Homarus americanus, were examined using extracellular neurophysiological recording techniques. Exposure of legs for 3-5 min to 10 mg/L drilling mud suspended in seawater altered responses to food odors of 29% of the chemoreceptors examined (data pooled for the two drilling muds tested); similar exposure to 100 mg/L drilling mud resulted in interference with 44% of all receptors studied. The effects of both of these concentrations are statistically significant, although they are not different from each other. Interference was usually manifested as a marked reduction in the number of action potentials in a response. In one preparation, the exposure to drilling mud caused a change in the temporal pattern of the spikes without affecting the total number of spikes. Other chemosensory neurons were excited by 10 mg/L drilling mud itself. However, not all chemoreceptors are inhibited by these drilling muds since responses to feeding stimuli were recorded from the legs of lobsters that had been exposed to drilling mud for 4-8 d before the neurophysiological experiments. Antennular and leg chemoreceptors are important in eliciting normal feeding behavior in lobsters. Although behavioral assays have demonstrated that feeding behavior is altered following exposure to drilling muds and petroleum fractions, there is no conclusive proof for a causal relationship between chemoreceptor interference and behavior deficits. The two techniques complement each other as pollution detection assays, perhaps reflecting a common interference mechanism. 42 references, 4 figures, 2 tables.

  19. Population parameters and the relationships between environmental factors and abundance of the Acetes americanus shrimp (Dendrobranchiata: Sergestidae near a coastal upwelling region of Brazil

    Directory of Open Access Journals (Sweden)

    Ana Paula Freitas dos Santos

    2015-09-01

    Full Text Available AbstractThe population dynamics of Acetes americanus was investigated, focusing on the sex ratio, individual growth, longevity, recruitment and relationship between abundance and environmental factors in the region of Macaé, strongly influenced by coastal upwelling. Otter trawl net samplings were performed from July 2010 to June 2011 at two points (5 m and 15 m. Nearly 19,500 specimens, predominantly females (77.15%, were captured. Their sizes, larger than that of males, indicated sexual dimorphism. Shrimps at lower latitudes present larger sizes and longer longevity than those from higher latitudes. This difference is probably due to low temperatures and high primary productivity. Though no statistical correlation was found between abundance and environmental factors, the species was more abundant in temperatures closer to 20.0º C and in months with high chlorophyll-a levels. Due to the peculiar characteristics of this region, A. americanusshowed greater differences in size and longevity than individuals sampled in other studies undertaken in the continental shelf of Southeast Brazil.

  20. THE USE OF KETAMINE-XYLAZINE OR BUTORPHANOL-AZAPERONE-MEDETOMIDINE TO IMMOBILIZE AMERICAN BLACK BEARS ( URSUS AMERICANUS).

    Science.gov (United States)

    Williamson, Ryan H; Muller, Lisa L; Blair, Coy

    2018-04-04

      Wildlife anesthetic protocols must offer rapid inductions and recoveries, be physiologically safe, and be minimally regulated. With this in mind, we evaluated differences in induction and recovery times and physiological parameters in 33 American black bears ( Ursus americanus) anesthetized with ketamine-xylazine (KX) or immobilized with a commercial drug combination of butorphanol, azaperone, and medetomidine (BAM). Dose was based on mass estimated from field observations. Bears were housed at Appalachian Bear Rescue, Townsend, Tennessee, US, or free-ranging within the Great Smoky Mountains National Park (Tennessee and North Carolina, US) and chemically immobilized for management purposes. From 11 April to 29 June 2016, we immobilized bears with injection via pole syringe or disposable dart projected from an air-powered dart rifle. Once immobilized, we measured each bear's temperature, respiration (breaths/min), heart rate (beats/min), hemoglobin oxygen saturation (via pulse oximetry), arterial blood gases, and mass (kg). We found no differences in the induction parameters, partial pressures of CO 2 , and rectal temperatures. The BAM-treated bears had lower heart and respiratory rates that led to lower hemoglobin oxygen saturation levels (from blood gas analysis, SaO 2 ). The SaO 2 after treatment with BAM (91.1±0.8%) was lower than with KX (93.4±0.9%). After handling, we reversed KX-treated bears with a x̄=0.2±0.02 mg/kg yohimbine and BAM-treated bears with x̄=1.5±0.1 mg/kg atipamezole and 0.8±0.1 mg/kg naltrexone. We found no differences in the recovery times to increased respiration and to the bear assuming a head-up position. The BAM-treated bears stood and recovered quicker than did KX-treated animals. Based on our observations, BAM appears to offer safe, predictable immobilizations with fewer drawbacks and faster recovery times than KX-treated bears.

  1. Wound healing during hibernation by black bears (Ursus americanus) in the wild: elicitation of reduced scar formation.

    Science.gov (United States)

    Iaizzo, Paul A; Laske, Timothy G; Harlow, Henry J; McClay, Carolyn B; Garshelis, David L

    2012-03-01

    Even mildly hypothermic body or limb temperatures can retard healing processes in mammals. Despite this, we observed that hibernating American black bears (Ursus americanus Pallas, 1780) elicit profound abilities in mounting inflammatory responses to infection and/or foreign bodies. In addition, they resolve injuries during hibernation while maintaining mildly hypothermic states (30-35 °C) and without eating, drinking, urinating or defecating. We describe experimental studies on free-ranging bears that document their abilities to completely resolve cutaneous cuts and punctures incurred during or prior to hibernation. We induced small, full-thickness cutaneous wounds (biopsies or incisions) during early denning, and re-biopsied sites 2-3 months later (near the end of denning). Routine histological methods were used to characterize these skin samples. All biopsied sites with respect to secondary intention (open circular biopsies) and primary intention (sutured sites) healed, with evidence of initial eschar (scab) formation, completeness of healed epidermis and dermal layers, dyskeratosis (inclusion cysts), and abilities to produce hair follicles. These healing abilities of hibernating black bears are a clear survival advantage to animals injured before or during denning. Bears are known to have elevated levels of hibernation induction trigger (delta-opioid receptor agonist) and ursodeoxycholic acid (major bile acid within plasma, mostly conjugated with taurine) during hibernation, which may relate to these wound-healing abilities. Further research as to the underlying mechanisms of wound healing during hibernation could have applications in human medicine. Unique approaches may be found to improve healing for malnourished, hypothermic, diabetic and elderly patients or to reduce scarring associated with burns and traumatic injuries. © 2012 ISZS, Blackwell Publishing and IOZ/CAS.

  2. Sex, Diet, and the Social Environment: Factors Influencing Hair Cortisol Concentration in Free-Ranging Black Bears (Ursus americanus)

    Science.gov (United States)

    Lafferty, Diana J. R.; Laudenslager, Mark L.; Mowat, Garth; Heard, Doug; Belant, Jerrold L.

    2015-01-01

    Increasingly, measures of glucocorticoid levels (e.g., cortisol), key components of the neuroendocrine stress axis, are being used to measure past hypothalamic-pituitary-adrenal (HPA) activity to index psychological and physiological stress exhibited by wildlife for assessing individual and population-level well-being. However, many intrinsic and extrinsic factors affect HPA activity in animals. Using American black bears (Ursus americanus; n = 116) as an ecological model and hair cortisol concentration (HCC) as an integrative measure of past HPA activity, we evaluated the influence of diet, sex and the social environment on black bear HCC in a free-ranging population that spanned adjoining ecoregions with differing densities of potential conspecific and heterospecific competitors. HCC varied by sex, with female HCC ranging from 0.6 to 10.7 pg/mg (median = 4.5 ± 1.2 mean absolute deviation [MAD]) and male HCC ranging from 0.5 to 35.1 pg/mg (median = 6.2 ± 2.6 MAD). We also observed a three-way interaction among sex, δ14C and ecoregion, which may indicate that some differences in HCC between female and male black bears results from variability in the nutritional needs of larger-bodied males relative to smaller-bodied females, slight differences in food resources use between ecoregions as well as sex-based differences regarding the social environment. Once we understand what drives sex-specific differences in HCC, HCC may aid our understanding of the physiological responses by bears and other wildlife to diverse environmental challenges. PMID:26529405

  3. Sex, Diet, and the Social Environment: Factors Influencing Hair Cortisol Concentration in Free-Ranging Black Bears (Ursus americanus.

    Directory of Open Access Journals (Sweden)

    Diana J R Lafferty

    Full Text Available Increasingly, measures of glucocorticoid levels (e.g., cortisol, key components of the neuroendocrine stress axis, are being used to measure past hypothalamic-pituitary-adrenal (HPA activity to index psychological and physiological stress exhibited by wildlife for assessing individual and population-level well-being. However, many intrinsic and extrinsic factors affect HPA activity in animals. Using American black bears (Ursus americanus; n = 116 as an ecological model and hair cortisol concentration (HCC as an integrative measure of past HPA activity, we evaluated the influence of diet, sex and the social environment on black bear HCC in a free-ranging population that spanned adjoining ecoregions with differing densities of potential conspecific and heterospecific competitors. HCC varied by sex, with female HCC ranging from 0.6 to 10.7 pg/mg (median = 4.5 ± 1.2 mean absolute deviation [MAD] and male HCC ranging from 0.5 to 35.1 pg/mg (median = 6.2 ± 2.6 MAD. We also observed a three-way interaction among sex, δ14C and ecoregion, which may indicate that some differences in HCC between female and male black bears results from variability in the nutritional needs of larger-bodied males relative to smaller-bodied females, slight differences in food resources use between ecoregions as well as sex-based differences regarding the social environment. Once we understand what drives sex-specific differences in HCC, HCC may aid our understanding of the physiological responses by bears and other wildlife to diverse environmental challenges.

  4. Effects of starvation on moult cycle and hepatopancreas of Stage I lobster (Homarus americanus) larvae

    Science.gov (United States)

    Anger, K.; Storch, V.; Anger, V.; Capuzzo, J. M.

    1985-06-01

    Effects of feeding and starvation on the moult cycle and on the ultrastructure of hepatopancreas cells were studied in Stage I lobster larvae ( Homarus americanus Milne-Edwards). The relative significance of yolk and first food was quite different in larvae originating from two females. This difference was evident also in the amounts of stored lipid in the R-cells of the larval hepatopancreas. Most larvae from one hatch were, in principle, able to develop exclusively with yolk reserves (without food) to the second instar. The larvae from the second hatch showed lecithotrophic development only to the transition between late intermoult and early premoult (Stages C/D0 of Drachs's moult cycle) of the first larval instar. When initial starvation in this group lasted for 3 days or more, the point of no return (PNR) was exceeded. After the PNR, consumption of food was still possible, but development ceased in the transition C/D0 or in late premoult (D3 4). It is suggested that these stages of the moult cycle are critical points were cessation of development and increased mortality are particularly likely in early larval lobsters under nutritional stress. Examination of hepatopancreas R-cells suggested that the PNR is caused by an irreversible loss of the ability to restore lipid reserves depleted during initial starvation. Initial periods of starvation ending before the PNR prolonged mainly Stage D0 of the same instar (I). During this delay, structural changes in the R-cells caused by the preceding period of starvation were reversed: reduced lipid inclusions, swollen mitochondria, an increased number of residual bodies indicating autolysis, and a reduction of the microvillous processes. Continually starved larvae which showed lecithotrophic development throughout the first instar and were then re-fed after moulting successfully, had later a prolonged intermoult (Stage C) period in the second instar. This shows that, despite occasional lecithotrophy, food is an important

  5. The effect of soil composition and hydration on the bioavailability and toxicity of cadmium to hibernating juvenile American toads (Bufo americanus)

    Science.gov (United States)

    James, Stacy M.; Little, Edward E.; Semlitsch, Raymond D.

    2004-01-01

    The soil ecotoxicology literature has focused primarily on a few major taxa, to the neglect of other fossorial organisms such as amphibians. We selected cadmium (Cd) and the American toad (Bufo americanus) as a model contaminant and biological species to assess the impact of soil contamination on amphibian hibernation survival and post-hibernation condition. Soil sand composition (50, 70, 90%) and hydration (100, 150% water holding capacity (WHC)) were manipulated in addition to Cd concentration (0, 56, 165, 483 μg/g) to determine whether these soil properties affect toxicity. Soil Cd concentration significantly reduced survival and locomotor performance, and was correlated negatively with percent mass loss and positively with whole body Cd concentration. Higher sand content resulted in less mass loss and greater Cd uptake. Toads that were hibernated in 50% sand hydrated to 100% WHC had higher survival, less mass loss, and better sprint performance than those hibernated in 50% sand, 150% WHC. This study demonstrates that concentrations of Cd found in soil at highly contaminated sites can be bioaccumulated by hibernating amphibians and may reduce fitness. Differences in microhabitat use may cause species to vary in their exposure and susceptibility to soil contamination. The toxicity of Cd to amphibians could be greater in natural systems where there are multiple stressors and fluctuations in environmental variables.

  6. Colonization of dodder, Cuscuta indecora, by 'Candidatus Liberibacter asiaticus' and 'Ca. L. americanus'.

    Science.gov (United States)

    Hartung, John S; Paul, Cristina; Achor, Diann; Brlansky, R H

    2010-08-01

    Huanglongbing, or citrus greening, threatens the global citrus industry. The presumptive pathogens, 'Candidatus Liberibacter asiaticus' and 'Ca. L. americanus' can be transferred from citrus to more easily studied experimental hosts by using holoparasitic dodder plants. However, the interaction between 'Candidatus Liberibacter' spp. and the dodder has not been studied. We combined quantitative polymerase chain reaction with electron microscopy to show that only 65% of tendrils of Cuscuta indecora grown on 'Ca. Liberibacter' spp.-infected host plants had detectable levels of the pathogen. Among tendrils that were colonized by Liberibacter in at least one 2 cm segment, most were not colonized in all segments. Furthermore, the estimated population levels of the pathogen present in serial 2 cm segments of dodder tendrils varied widely and without any consistent pattern. Thus, there was generally not a concentration gradient of the pathogen from the source plant towards the recipient and populations of the pathogen were sometimes found in the distal segments of the dodder plant but not in the proximal or middle segments. Populations of the pathogens ranged from 2 x 10(2) to 3.0 x 10(8) cells per 2 cm segment. On a fresh weight basis, populations as high as 1.4 x 10(10) cells per g of tissue were observed demonstrating that 'Ca. Liberibacter' spp. multiplies well in Cuscuta indecora. However, 55% of individual stem segments did not contain detectable levels of the pathogen, consistent with a pattern of nonuniform colonization similar to that observed in the much more anatomically complex citrus tree. Colonization of dodder by the pathogen is also nonuniform at the ultrastructural level, with adjacent phloem vessel elements being completely full of the pathogen or free of the pathogen. We also observed bacteria in the phloem vessels that belonged to two distinct size classes based on the diameters of cross sections of cells. In other sections from the same tendrils we

  7. Dental and Temporomandibular Joint Pathology of the American Black Bear (Ursus americanus).

    Science.gov (United States)

    Clark, E J; Chesnutt, S R; Winer, J N; Kass, P H; Verstraete, F J M

    Museum specimens (maxillae and/or mandibles) from 371 American black bears (Ursus americanus) acquired between 1889 and 2006 were examined macroscopically according to predefined criteria, and 348 were included in this study. Of the 348 specimens, 126 (36.2%) were from male animals, 106 (30.5%) were from female animals and 116 (33.3%) were from animals of unknown sex. Specimen ages ranged from young adult (n = 63, 18.1%) to adult (n = 285, 81.9%), with juveniles excluded from the study. The number of teeth available for examination was 12,019 (82.2%); 7.0% of teeth were absent artefactually, 0.4% were deemed absent due to acquired tooth loss and 9.7% were absent congenitally. In 43 specimens (12.3%), 82 teeth (0.68%) were small vestigial structures with crowns that were flush with the level of surrounding alveolar bone. The remaining teeth (99.3%) were of normal morphology. Only three supernumerary teeth and three instances of enamel hypoplasia were encountered. Persistent deciduous teeth or teeth with an aberrant number of roots were not encountered in any of the specimens. Approximately one-third of the teeth examined (4,543, 37.8%) displayed attrition/abrasion, affecting nearly all of the specimens (n = 338, 97.1%). Incisor and molar teeth accounted for 52.5% and 34.3% of the affected teeth, respectively, with significantly more adults affected than young adults. Dental fractures were noted in 63 bears, affecting 18.1% of specimens and 1.0% of the total number of present teeth. The canine teeth were most often fractured, with adults having significantly more complicated crown fractures of these teeth than young adults. There were 11 specimens (3.2%) that displayed periapical lesions, affecting 12 (0.1%) dental alveoli. There were 179 specimens (51.4%) displaying bony changes indicative of periodontitis, affecting 816 (6.8%) dental alveoli. The proportion of adult bears affected by periodontitis (57.9%) was significantly greater than that of young adults

  8. Cycliophora is a new phylum with affinities to Entoprocta and Ectoprocta

    DEFF Research Database (Denmark)

    Funch, P.; Kristensen, R.M.

    1995-01-01

    The mouthparts of the Norway lobster Nephrops are colonized by an acoelomate metazoan, Symbion pandora gen. et sp, nov. Sessile stages continually produce inner buds replacing feeding structures, They also produce one of three motile stages: (1) larvae containing new feeding stages, (2) dwarf males......, which settle on feeding stages, or (3) females, which settle onto lobster mouthparts, and eventually degenerate, giving rise to dispersive larvae, All motile stages are short-lived, and do not feed, The structure and function of the cilia suggest a phylogenetic position in Protostomia, while some...

  9. Combined toxicity of free chlorine, chloramine, and temperature to stage 1 larvae of the American lobster Homarus americanus

    Energy Technology Data Exchange (ETDEWEB)

    Capuzzo, J M; Lawrence, S A; Davidson, J A

    1976-01-01

    The differential effects of free chlorine and chloramine on stage I larvae of the American lobster Homarus americanus have been investigated in continuous flow bioassay units. Applied chloramine was more toxic than corresponding concentrations of applied free chlorine to lobster larvae with estimated LC/sub 50/ values at 25/sup 0/ of 16.30 mg/l applied free chlorine and 2.02 mg/l applied chloramine. The synergistic effect of temperature on the toxicity of both free chlorine and chloramine has also been demonstrated. Exposure to applied free chlorine at 20/sup 0/ resulted in no significant mortality of test organisms, whereas exposure at 30/sup 0/ resulted in an estimated LC/sub 50/ value of 2.50 mg/l. Applied chloramine was considerably more toxic with an estimated LC/sub 50/ value at 20/sup 0/ of 4.08 mg/l and at 30/sup 0/ of 0.56 mg/l. The action of each toxicant appeared to be an alteration of standard metabolic activity as revealed by changes in respiration rates during and after exposure to applied free chlorine and chloramine. Initial respiratory stress was detected during exposure to 0.05 mg/l applied chloramine and 5.00 mg/l applied free chlorine. Reductions in respiration rates 48 h after exposure were observed with exposure to all concentrations tested, similar results being obtained following exposure to 0.05 mg/l applied chloramine and 0.10 mg/l applied free chlorine. These results are indicative of the need for information in addition to that obtained in standard bioassays for an adequate assessment of chlorine toxicity.

  10. Piloting a Non-Invasive Genetic Sampling Method for Evaluating Population-Level Benefits of Wildlife Crossing Structures

    Directory of Open Access Journals (Sweden)

    Anthony P. Clevenger

    2010-03-01

    Full Text Available Intuitively, wildlife crossing structures should enhance the viability of wildlife populations. Previous research has demonstrated that a broad range of species will use crossing structures, however, questions remain as to whether these measures actually provide benefits to populations. To assess this, studies will need to determine the number of individuals using crossings, their sex, and their genetic relationships. Obtaining empirical data demonstrating population-level benefits for some species can be problematic and challenging at best. Molecular techniques now make it possible to identify species, individuals, their sex, and their genetic relatedness from hair samples collected through non-invasive genetic sampling (NGS. We describe efforts to pilot a method to assess potential population-level benefits of wildlife crossing structures. We tested the feasibility of a prototype NGS system designed to sample hair from black bears (Ursus americanus and grizzly bears (U. arctos at two wildlife underpasses. The piloted hair-sampling method did not deter animal use of the trial underpasses and was effective at sampling hair from more than 90% of the bear crossing events at the underpasses. Hair samples were also obtained from non-target carnivore species, including three out of five (60% cougar (Puma concolor crossing events. Individual identification analysis revealed that three female and two male grizzly bears used one wildlife underpass, whereas two female and three male black bears were identified as using the other underpass. Of the 36 hair samples from bears analyzed, five failed, resulting in an 87% extraction success rate, and six more were only identified to species. Overall, 70% of the hair samples from bears collected in the field had sufficient DNA for extraction purposes. Preliminary data from our NGS suggest the technique can be a reliable method to assess the population-level benefits of Banff wildlife crossings. Furthermore, NGS

  11. Comparing urban and wildland bear densities with a DNA-based capture-mark-recapture approach

    OpenAIRE

    Fusaro, Jonathan L.; Conner, Mary M.; Conover, Michael R.; Taylor, Timothy J.; Kenyon, Marc W., Jr.; Sherman, Jamie R.; Ernest, Holly B.

    2017-01-01

    California’s black bear (Ursus americanus) population has tripled over the last 3 decades, causing an increased incidence of human–bear conflicts, many of which now occur in urban areas. Consequently, it is imperative that bear managers have the ability to monitor population parameters in both wildland and urban environments to help manage bears. Capture-mark-recapture (CMR) methods using uniquely typed genetic samples (DNA) collected via hair-snares have been widely used to monitor bears in ...

  12. Genetic Predictions of Prion Disease Susceptibility in Carnivore Species Based on Variability of the Prion Gene Coding Region

    Science.gov (United States)

    Stewart, Paula; Campbell, Lauren; Skogtvedt, Susan; Griffin, Karen A.; Arnemo, Jon M.; Tryland, Morten; Girling, Simon; Miller, Michael W.; Tranulis, Michael A.; Goldmann, Wilfred

    2012-01-01

    Mammalian species vary widely in their apparent susceptibility to prion diseases. For example, several felid species developed prion disease (feline spongiform encephalopathy or FSE) during the bovine spongiform encephalopathy (BSE) epidemic in the United Kingdom, whereas no canine BSE cases were detected. Whether either of these or other groups of carnivore species can contract other prion diseases (e.g. chronic wasting disease or CWD) remains an open question. Variation in the host-encoded prion protein (PrPC) largely explains observed disease susceptibility patterns within ruminant species, and may explain interspecies differences in susceptibility as well. We sequenced and compared the open reading frame of the PRNP gene encoding PrPC protein from 609 animal samples comprising 29 species from 22 genera of the Order Carnivora; amongst these samples were 15 FSE cases. Our analysis revealed that FSE cases did not encode an identifiable disease-associated PrP polymorphism. However, all canid PrPs contained aspartic acid or glutamic acid at codon 163 which we propose provides a genetic basis for observed susceptibility differences between canids and felids. Among other carnivores studied, wolverine (Gulo gulo) and pine marten (Martes martes) were the only non-canid species to also express PrP-Asp163, which may impact on their prion diseases susceptibility. Populations of black bear (Ursus americanus) and mountain lion (Puma concolor) from Colorado showed little genetic variation in the PrP protein and no variants likely to be highly resistant to prions in general, suggesting that strain differences between BSE and CWD prions also may contribute to the limited apparent host range of the latter. PMID:23236380

  13. Genetic predictions of prion disease susceptibility in carnivore species based on variability of the prion gene coding region.

    Directory of Open Access Journals (Sweden)

    Paula Stewart

    Full Text Available Mammalian species vary widely in their apparent susceptibility to prion diseases. For example, several felid species developed prion disease (feline spongiform encephalopathy or FSE during the bovine spongiform encephalopathy (BSE epidemic in the United Kingdom, whereas no canine BSE cases were detected. Whether either of these or other groups of carnivore species can contract other prion diseases (e.g. chronic wasting disease or CWD remains an open question. Variation in the host-encoded prion protein (PrP(C largely explains observed disease susceptibility patterns within ruminant species, and may explain interspecies differences in susceptibility as well. We sequenced and compared the open reading frame of the PRNP gene encoding PrP(C protein from 609 animal samples comprising 29 species from 22 genera of the Order Carnivora; amongst these samples were 15 FSE cases. Our analysis revealed that FSE cases did not encode an identifiable disease-associated PrP polymorphism. However, all canid PrPs contained aspartic acid or glutamic acid at codon 163 which we propose provides a genetic basis for observed susceptibility differences between canids and felids. Among other carnivores studied, wolverine (Gulo gulo and pine marten (Martes martes were the only non-canid species to also express PrP-Asp163, which may impact on their prion diseases susceptibility. Populations of black bear (Ursus americanus and mountain lion (Puma concolor from Colorado showed little genetic variation in the PrP protein and no variants likely to be highly resistant to prions in general, suggesting that strain differences between BSE and CWD prions also may contribute to the limited apparent host range of the latter.

  14. Construction of a subtractive library from hexavalent chromium treated winter flounder (Pseudopleuronectes americanus) reveals alterations in non-selenium glutathione peroxidases

    International Nuclear Information System (INIS)

    Chapman, Laura M.; Roling, Jonathan A.; Bingham, Lacey K.; Herald, Matt R.; Baldwin, William S.

    2004-01-01

    Chromium is released during several industrial processes and has accumulated in some estuarine areas. Its effects on mammals have been widely studied, but relatively little information is available on its effects on fish. Gene expression changes are useful biomarkers that can provide information about toxicant exposure and effects, as well as the health of an organism and its ability to adapt to its surroundings. Therefore, we investigated the effects of Cr(VI) on gene expression in the sediment dwelling fish, winter flounder (Pseudopleuronectes americanus). Winter flounder ranging from 300 to 360 g were injected i.p. with Cr(VI) as chromium oxide at 25 μg/kg chromium in 0.15N KCl. Twenty-four hours following injections, winter flounder were euthanized with MS-222 and the livers were excised. Half of the livers were used to make cytosol and the other half were used to isolate mRNA for subtractive hybridization. Subtractive clones obtained were spotted onto nylon filters, which revealed several genes with potentially altered expression due to Cr(VI), including an α class GST, 1-Cys peroxiredoxin (a non-selenium glutathione peroxidase), a P-450 2X subfamily member, two elongation factors (EF-1 gamma and EF-2), and complement component C3. Semi-quantitative RT-PCR was performed and confirmed that Cr(VI) down-regulated complement component C3, an EST, and two potential glutathione peroxidases, GSTA3 and 1-Cys peroxiredoxin. In addition, cytosolic GSH peroxidase activity was reduced, and silver stained SDS-PAGE gels from glutathione-affinity purified cytosol demonstrated that a 27.1 kDa GSH-binding protein was down-regulated greater than 50%. Taken together, Cr(VI) significantly altered the expression of several genes including two potential glutathione peroxidases in winter flounder

  15. The tactile-stimulated startle response of tadpoles: acceleration performance and its relationship to the anatomy of wood frog (Rana sylvatica), bullfrog (Rana catesbeiana), and American toad (Bufo americanus) tadpoles.

    Science.gov (United States)

    Eidietis, Laura

    2006-04-01

    I described the tactile-stimulated startle response (TSR) of wood frog (Rana sylvatica), bullfrog (Rana catesbeiana), and American toad (Bufo americanus) tadpoles. One purpose was to rank species in terms of maximum acceleration performance. Also, I tested whether anatomical indicators of performance potential were predictive of realized performance. TSRs were elicited in a laboratory setting, filmed at 250 Hz, and digitally analyzed. TSRs began with two, initial body curls during which tadpoles showed a broad spectrum of movement patterns. TSR performance was quantified by maximum linear acceleration and maximum rotational acceleration of the head/body, both of which tended to occur immediately upon initiation of motion ( wood frog > American toad. The species' rank order for the anatomical indicator of rotational acceleration potential was bullfrog > wood frog = American toad. Thus, the anatomical indicators roughly predicted the rank order of interspecific average performance. However, the anatomical indicators did not correlate with individual tadpole performance. Variability in behavioral patterns may obscure the connection between anatomy and performance. This is seen in the current lack of intraspecific correlation between a morphological indicator of acceleration capacity and acceleration performance.

  16. Role of Ih in differentiating the dynamics of the gastric and pyloric neurons in the stomatogastric ganglion of the lobster, Homarus americanus.

    Science.gov (United States)

    Zhu, Lin; Selverston, Allen I; Ayers, Joseph

    2016-06-01

    The hyperpolarization-activated inward cationic current (Ih) is known to regulate the rhythmicity, excitability, and synaptic transmission in heart cells and many types of neurons across a variety of species, including some pyloric and gastric mill neurons in the stomatogastric ganglion (STG) in Cancer borealis and Panulirus interruptus However, little is known about the role of Ih in regulating the gastric mill dynamics and its contribution to the dynamical bifurcation of the gastric mill and pyloric networks. We investigated the role of Ih in the rhythmic activity and cellular excitability of both the gastric mill neurons (medial gastric, gastric mill) and pyloric neurons (pyloric dilator, lateral pyloric) in Homarus americanus Through testing the burst period between 5 and 50 mM CsCl, and elimination of postinhibitory rebound and voltage sag, we found that 30 mM CsCl can sufficiently block Ih in both the pyloric and gastric mill neurons. Our results show that Ih maintains the excitability of both the pyloric and gastric mill neurons. However, Ih regulates slow oscillations of the pyloric and gastric mill neurons differently. Specifically, blocking Ih diminishes the difference between the pyloric and gastric mill burst periods by increasing the pyloric burst period and decreasing the gastric mill burst period. Moreover, the phase-plane analysis shows that blocking Ih causes the trajectory of slow oscillations of the gastric mill neurons to change toward the pyloric sinusoidal-like trajectories. In addition to regulating the pyloric rhythm, we found that Ih is also essential for the gastric mill rhythms and differentially regulates these two dynamics. Copyright © 2016 the American Physiological Society.

  17. Differential metamorphosis alters the endocrine response in anuran larvae exposed to T3 and atrazine

    International Nuclear Information System (INIS)

    Freeman, Jennifer L.; Beccue, Nathan; Rayburn, A. Lane

    2005-01-01

    Pesticide chemical contamination is one of the suspected contributors of the amphibian population decline. The herbicide atrazine is one of the major surface water contaminants in the U.S. A previous study has shown that atrazine at concentrations as low as 100 parts per billion (ppb) increased the time to metamorphosis in Xenopus laevis tadpoles. However, questions remain as to the applicability of a study of a non-native species to a native organism. The possible effects of atrazine on developing Bufo americanus were explored. Atrazine at potentially (albeit high) environmental concentrations was found not to delay the metamorphosis of developing B. americanus tadpoles as observed in X. laevis. Several studies have indicated that atrazine affects thyroid hormones. Since thyroid hormones are critical in amphibian metamorphosis, B. americanus and X. laevis tadpoles were exposed to exogenous 3,5,3'-triiodothyronine (T 3 ). X. laevis were found to be more responsive to the effects of exogenous T 3 compared to B. americanus, indicating that X. laevis may be more sensitive to endocrine active chemicals than B. americanus. In X. laevis, nuclear heterogeneity has been associated with metamorphosis. Flow cytometric analysis of the nuclei of normal metamorphing B. americanus indicates a decrease in the amount of thyroid mediated chromatin alterations relative to the nuclei of metamorphing X. laevis. Indications are that the differential response to endocrine disruption is due to the differential role of chromatin associated gene expression during metamorphosis of B. americanus versus X. laevis. A second native species, Hyla versicolor, was observed to have the X. laevis nuclear pattern with respect to metamorphosis. As such, sensitivity to endocrine disruption is hypothesized not to be limited to laboratory non-native species

  18. Differential metamorphosis alters the endocrine response in anuran larvae exposed to T{sub 3} and atrazine

    Energy Technology Data Exchange (ETDEWEB)

    Freeman, Jennifer L. [University of Illinois, Department of Crop Sciences, 1201 W. Gregory Drive, 320 ERML, Urbana, IL 61801 (United States); Beccue, Nathan [University of Illinois, Department of Crop Sciences, 1201 W. Gregory Drive, 320 ERML, Urbana, IL 61801 (United States); Rayburn, A. Lane [University of Illinois, Department of Crop Sciences, 1201 W. Gregory Drive, 320 ERML, Urbana, IL 61801 (United States)]. E-mail: arayburn@uiuc.edu

    2005-11-10

    Pesticide chemical contamination is one of the suspected contributors of the amphibian population decline. The herbicide atrazine is one of the major surface water contaminants in the U.S. A previous study has shown that atrazine at concentrations as low as 100 parts per billion (ppb) increased the time to metamorphosis in Xenopus laevis tadpoles. However, questions remain as to the applicability of a study of a non-native species to a native organism. The possible effects of atrazine on developing Bufo americanus were explored. Atrazine at potentially (albeit high) environmental concentrations was found not to delay the metamorphosis of developing B. americanus tadpoles as observed in X. laevis. Several studies have indicated that atrazine affects thyroid hormones. Since thyroid hormones are critical in amphibian metamorphosis, B. americanus and X. laevis tadpoles were exposed to exogenous 3,5,3'-triiodothyronine (T{sub 3}). X. laevis were found to be more responsive to the effects of exogenous T{sub 3} compared to B. americanus, indicating that X. laevis may be more sensitive to endocrine active chemicals than B. americanus. In X. laevis, nuclear heterogeneity has been associated with metamorphosis. Flow cytometric analysis of the nuclei of normal metamorphing B. americanus indicates a decrease in the amount of thyroid mediated chromatin alterations relative to the nuclei of metamorphing X. laevis. Indications are that the differential response to endocrine disruption is due to the differential role of chromatin associated gene expression during metamorphosis of B. americanus versus X. laevis. A second native species, Hyla versicolor, was observed to have the X. laevis nuclear pattern with respect to metamorphosis. As such, sensitivity to endocrine disruption is hypothesized not to be limited to laboratory non-native species.

  19. Citrus huanglongbing in São Paulo State, Brazil: PCR detection of the 'Candidatus' Liberibacter species associated with the disease.

    Science.gov (United States)

    do Carmo Teixeira, Diva; Luc Danet, Jean; Eveillard, Sandrine; Cristina Martins, Elaine; de Jesus Junior, Waldir Cintra; Takao Yamamoto, Pedro; Aparecido Lopes, Silvio; Beozzo Bassanezi, Renato; Juliano Ayres, Antonio; Saillard, Colette; Bové, Joseph Marie

    2005-06-01

    Symptoms of huanglongbing (HLB), one of the most serious diseases of citrus in Asia and Africa, have been noticed in March 2004 in the Araraquara region of São Paulo State, Brazil. HLB has not been reported previously from America. The causal HLB bacteria, Candidatus Liberibacter africanus in Africa and Candidatus Liberibacter asiaticus in Asia, can be detected in symptomatic citrus leaves by PCR amplification of their 16S rDNA with previously described primers. When this technique was applied to 43 symptomatic leaf samples from the Araraquara region, all PCR reactions were negative. This suggested that a new pathogen, not detected by the above primers, could be involved in HLB in the State of São Paulo. Indeed, by using universal primers for amplification of bacterial 16S rDNA, a new liberibacter species, Candidatus Liberibacter americanus, has recently been identified. Specific primers for PCR amplification of the 16S rDNA of Ca. L. americanus have been selected. Using these primers, the new liberibacter could be detected in 214 symptomatic leaf samples tested. The leaves of two additional samples were infected with Candidatus Liberibacter asiaticus, and two further samples contained both Ca. L. americanus and Ca. L. asiaticus. The samples came from 47 farms in 35 municipalities. The psyllid vector of Ca. L. asiaticus, Diaphorina citri, is established in South, Central, and North America (Florida and Texas). Ca. L. americanus could be detected by PCR in several batches of D. citri psyllids collected on symptomatic sweet orange trees infected with Ca. L. americanus, strongly suggesting that D. citri is the vector of Ca. L. americanus. The results reported here confirm the presence of HLB in the State of São Paulo. Ca. L. americanus is the most widely distributed pathogen.

  20. Investigating the mechanism for maintaining eucalcemia despite immobility and anuria in the hibernating American black bear (Ursus americanus).

    Science.gov (United States)

    Seger, Rita L; Cross, Randal A; Rosen, Clifford J; Causey, Robert C; Gundberg, Caren M; Carpenter, Thomas O; Chen, Tai C; Halteman, William A; Holick, Michael F; Jakubas, Walter J; Keisler, Duane H; Seger, Richard M; Servello, Frederick A

    2011-12-01

    Ursine hibernation uniquely combines prolonged skeletal unloading, anuria, pregnancy, lactation, protein recycling, and lipolysis. This study presents a radiographic and biochemical picture of bone metabolism in free-ranging, female American black bears (Ursus americanus) that were active (spring bears and autumn bears) or hibernating (hibernating bears). Hibernating bears included lactating and non-lactating individuals. We measured serum calcium, albumin, inorganic phosphate, creatinine, bone specific alkaline phosphatase (BSALP), CTX, parathyroid hormone, insulin-like growth factor-I (IGF-l), leptin, 25-hydroxyvitamin D [25(OH)D], 1,25-dihydroxyvitamin D [1,25(OH)(2)D] and sclerostin from 35 to 50 tranquilized hibernating bears and 14 to 35 tranquilized spring bears. We compared metacarpal cortical indices (MCI), measured by digital X-ray radiogrammetry, from 60 hunter-killed autumn bears and 79 tranquilized, hibernating bears. MCI was greater in autumn than winter in younger bears, but showed no seasonal difference in older bears. During hibernation eucalcemia was maintained, BSALP was suppressed, and CTX was in the range expected for anuria. During hibernation 1,25(OH)(2)D was produced despite anuria. 1,25(OH)(2)D and IGF-I were less in hibernating than spring bears. In a quarter of hibernating bears, sclerostin was elevated. Leptin was greater in hibernating than spring bears. In hibernating bears, leptin correlated positively with BSALP in non-lactating bears and with CTX in lactating bears. Taken together the biochemical and radiographic findings indicate that during hibernation, bone turnover was persistent, balanced, and suppressed; bone resorption was lower than expected for an unloaded skeleton; and there was no unloading-induced bone loss. The skeleton appears to perceive that it was loaded when it was actually unloaded during hibernation. However, at the level of sclerostin, the skeleton recognized that it was unloaded. During hibernation leptin

  1. Genetic modification and genetic determinism

    Science.gov (United States)

    Resnik, David B; Vorhaus, Daniel B

    2006-01-01

    In this article we examine four objections to the genetic modification of human beings: the freedom argument, the giftedness argument, the authenticity argument, and the uniqueness argument. We then demonstrate that each of these arguments against genetic modification assumes a strong version of genetic determinism. Since these strong deterministic assumptions are false, the arguments against genetic modification, which assume and depend upon these assumptions, are therefore unsound. Serious discussion of the morality of genetic modification, and the development of sound science policy, should be driven by arguments that address the actual consequences of genetic modification for individuals and society, not by ones propped up by false or misleading biological assumptions. PMID:16800884

  2. Genetic modification and genetic determinism

    Directory of Open Access Journals (Sweden)

    Vorhaus Daniel B

    2006-06-01

    Full Text Available Abstract In this article we examine four objections to the genetic modification of human beings: the freedom argument, the giftedness argument, the authenticity argument, and the uniqueness argument. We then demonstrate that each of these arguments against genetic modification assumes a strong version of genetic determinism. Since these strong deterministic assumptions are false, the arguments against genetic modification, which assume and depend upon these assumptions, are therefore unsound. Serious discussion of the morality of genetic modification, and the development of sound science policy, should be driven by arguments that address the actual consequences of genetic modification for individuals and society, not by ones propped up by false or misleading biological assumptions.

  3. The effects of aquatic oxygen concentration, body size and respiratory behaviour on the stamina of obligate aquatic (Bufo americanus) and facultative air-breathing (Xenopus laevis and Rana berlandieri) anuran larvae.

    Science.gov (United States)

    Wassersug, R J; Feder, M E

    1983-07-01

    Larvae of the anurans Rana berlandieri and Xenopus laevis have lungs and can breathe air as well as irrigate buccal and pharyngeal surfaces for aquatic respiration. Larvae of Bufo americanus lack lungs until just before metamorphosis and are obligately aquatic. We examined the relationship between the locomotor stamina (time to fatigue), aquatic oxygen concentration, body size, and respiratory behaviour of swimming larvae of these species, with the following results: Stamina is size-dependent in all three species. Aquatic hypoxia reduces stamina in larvae of all three species, but most conspicuously in Bufo. Breathing air increases stamina in Rana larvae, especially in large animals and under aquatic hypoxia. In contrast to Rana larvae, Xenopus larvae swimming in normoxic water undergo a reduction in stamina when allowed to breathe air. In hypoxic water, aerial respiration moderates the reduction in stamina seen in Xenopus larvae. Branchial irrigation is associated with increased stamina in Xenopus, and is increased under hypoxia and at high swimming velocities. Respiratory demand, buoyancy and the drag associated with branchial irrigation all affect respiratory behaviour in Xenopus larvae. The great amount of interspecific variation in the relationship between respiratory behaviour and stamina reveals the importance of measuring performance directly when attempting to interpret the functional significance of respiratory structures and behaviour.

  4. Estimating grizzly and black bear population abundance and trend in Banff National Park using noninvasive genetic sampling.

    Directory of Open Access Journals (Sweden)

    Michael A Sawaya

    Full Text Available We evaluated the potential of two noninvasive genetic sampling methods, hair traps and bear rub surveys, to estimate population abundance and trend of grizzly (Ursus arctos and black bear (U. americanus populations in Banff National Park, Alberta, Canada. Using Huggins closed population mark-recapture models, we obtained the first precise abundance estimates for grizzly bears (N= 73.5, 95% CI = 64-94 in 2006; N= 50.4, 95% CI = 49-59 in 2008 and black bears (N= 62.6, 95% CI = 51-89 in 2006; N= 81.8, 95% CI = 72-102 in 2008 in the Bow Valley. Hair traps had high detection rates for female grizzlies, and male and female black bears, but extremely low detection rates for male grizzlies. Conversely, bear rubs had high detection rates for male and female grizzlies, but low rates for black bears. We estimated realized population growth rates, lambda, for grizzly bear males (λ= 0.93, 95% CI = 0.74-1.17 and females (λ= 0.90, 95% CI = 0.67-1.20 using Pradel open population models with three years of bear rub data. Lambda estimates are supported by abundance estimates from combined hair trap/bear rub closed population models and are consistent with a system that is likely driven by high levels of human-caused mortality. Our results suggest that bear rub surveys would provide an efficient and powerful means to inventory and monitor grizzly bear populations in the Central Canadian Rocky Mountains.

  5. Estimating grizzly and black bear population abundance and trend in Banff National Park using noninvasive genetic sampling.

    Science.gov (United States)

    Sawaya, Michael A; Stetz, Jeffrey B; Clevenger, Anthony P; Gibeau, Michael L; Kalinowski, Steven T

    2012-01-01

    We evaluated the potential of two noninvasive genetic sampling methods, hair traps and bear rub surveys, to estimate population abundance and trend of grizzly (Ursus arctos) and black bear (U. americanus) populations in Banff National Park, Alberta, Canada. Using Huggins closed population mark-recapture models, we obtained the first precise abundance estimates for grizzly bears (N= 73.5, 95% CI = 64-94 in 2006; N= 50.4, 95% CI = 49-59 in 2008) and black bears (N= 62.6, 95% CI = 51-89 in 2006; N= 81.8, 95% CI = 72-102 in 2008) in the Bow Valley. Hair traps had high detection rates for female grizzlies, and male and female black bears, but extremely low detection rates for male grizzlies. Conversely, bear rubs had high detection rates for male and female grizzlies, but low rates for black bears. We estimated realized population growth rates, lambda, for grizzly bear males (λ= 0.93, 95% CI = 0.74-1.17) and females (λ= 0.90, 95% CI = 0.67-1.20) using Pradel open population models with three years of bear rub data. Lambda estimates are supported by abundance estimates from combined hair trap/bear rub closed population models and are consistent with a system that is likely driven by high levels of human-caused mortality. Our results suggest that bear rub surveys would provide an efficient and powerful means to inventory and monitor grizzly bear populations in the Central Canadian Rocky Mountains.

  6. Six months of disuse during hibernation does not increase intracortical porosity or decrease cortical bone geometry, strength, or mineralization in black bear (Ursus americanus) femurs.

    Science.gov (United States)

    McGee-Lawrence, Meghan E; Wojda, Samantha J; Barlow, Lindsay N; Drummer, Thomas D; Bunnell, Kevin; Auger, Janene; Black, Hal L; Donahue, Seth W

    2009-07-22

    Disuse typically uncouples bone formation from resorption, leading to bone loss which compromises bone mechanical properties and increases the risk of bone fracture. Previous studies suggest that bears can prevent bone loss during long periods of disuse (hibernation), but small sample sizes have limited the conclusions that can be drawn regarding the effects of hibernation on bone structure and strength in bears. Here we quantified the effects of hibernation on structural, mineral, and mechanical properties of black bear (Ursus americanus) cortical bone by studying femurs from large groups of male and female bears (with wide age ranges) killed during pre-hibernation (fall) and post-hibernation (spring) periods. Bone properties that are affected by body mass (e.g. bone geometrical properties) tended to be larger in male compared to female bears. There were no differences (p>0.226) in bone structure, mineral content, or mechanical properties between fall and spring bears. Bone geometrical properties differed by less than 5% and bone mechanical properties differed by less than 10% between fall and spring bears. Porosity (fall: 5.5+/-2.2%; spring: 4.8+/-1.6%) and ash fraction (fall: 0.694+/-0.011; spring: 0.696+/-0.010) also showed no change (p>0.304) between seasons. Statistical power was high (>72%) for these analyses. Furthermore, bone geometrical properties and ash fraction (a measure of mineral content) increased with age and porosity decreased with age. These results support the idea that bears possess a biological mechanism to prevent disuse and age-related osteoporoses.

  7. Epidemiological and genetic data supporting the transmission of Ancylostoma ceylanicum among human and domestic animals.

    Directory of Open Access Journals (Sweden)

    Romano Ngui

    Full Text Available BACKGROUND: Currently, information on species-specific hookworm infection is unavailable in Malaysia and is restricted worldwide due to limited application of molecular diagnostic tools. Given the importance of accurate identification of hookworms, this study was conducted as part of an ongoing molecular epidemiological investigation aimed at providing the first documented data on species-specific hookworm infection, associated risk factors and the role of domestic animals as reservoirs for hookworm infections in endemic communities of Malaysia. METHODS/FINDINGS: A total of 634 human and 105 domestic canine and feline fecal samples were randomly collected. The overall prevalence of hookworm in humans and animals determined via microscopy was 9.1% (95% CI = 7.0-11.7% and 61.9% (95% CI = 51.2-71.2%, respectively. Multivariate analysis indicated that participants without the provision of proper latrine systems (OR = 3.5; 95% CI = 1.53-8.00; p = 0.003, walking barefooted (OR = 5.6; 95% CI = 2.91-10.73; p<0.001 and in close contact with pets or livestock (OR = 2.9; 95% CI = 1.19-7.15; p = 0.009 were more likely to be infected with hookworms. Molecular analysis revealed that while most hookworm-positive individuals were infected with Necator americanus, Ancylostoma ceylanicum constituted 12.8% of single infections and 10.6% mixed infections with N. americanus. As for cats and dogs, 52.0% were positive for A. ceylanicum, 46.0% for Ancylostoma caninum and 2.0% for Ancylostoma braziliense and all were single infections. CONCLUSION: This present study provided evidence based on the combination of epidemiological, conventional diagnostic and molecular tools that A. ceylanicum infection is common and that its transmission dynamic in endemic areas in Malaysia is heightened by the close contact of human and domestic animal (i.e., dogs and cats populations.

  8. Genetic classes and genetic categories : Protecting genetic groups through data protection law

    NARCIS (Netherlands)

    Hallinan, Dara; de Hert, Paul; Taylor, L.; Floridi, L.; van der Sloot, B.

    2017-01-01

    Each person shares genetic code with others. Thus, one individual’s genome can reveal information about other individuals. When multiple individuals share aspects of genetic architecture, they form a ‘genetic group’. From a social and legal perspective, two types of genetic group exist: Those which

  9. Plant Genetic Resources: Selected Issues from Genetic Erosion to Genetic Engineering

    Directory of Open Access Journals (Sweden)

    Karl Hammer

    2008-04-01

    Full Text Available Plant Genetic Resources (PGR continue to play an important role in the development of agriculture. The following aspects receive a special consideration:1. Definition. The term was coined in 1970. The genepool concept served as an important tool in the further development. Different approaches are discussed.2. Values of Genetic Resources. A short introduction is highlighting this problem and stressing the economic usfulness of PGR.3. Genetic Erosion. Already observed by E. Baur in 1914, this is now a key issue within PGR. The case studies cited include Ethiopia, Italy, China, S Korea, Greece and S. Africa. Modern approaches concentrate on allelic changes in varieties over time but neglect the landraces. The causes and consequences of genetic erosion are discussed.4. Genetic Resources Conservation. Because of genetic erosion there is a need for conservation. PGR should be consigned to the appropriate method of conservation (ex situ, in situ, on-farm according to the scientific basis of biodiversity (genetic diversity, species diversity, ecosystem diversity and the evolutionary status of plants (cultivated plants, weeds, related wild plants (crop wild relatives.5. GMO. The impact of genetically engineered plants on genetic diversity is discussed.6. The Conclusions and Recommendations stress the importance of PGR. Their conservation and use are urgent necessities for the present development and future survival of mankind.

  10. Adults' perceptions of genetic counseling and genetic testing.

    Science.gov (United States)

    Houfek, Julia Fisco; Soltis-Vaughan, Brigette S; Atwood, Jan R; Reiser, Gwendolyn M; Schaefer, G Bradley

    2015-02-01

    This study described the perceptions of genetic counseling and testing of adults (N = 116) attending a genetic education program. Understanding perceptions of genetic counseling, including the importance of counseling topics, will contribute to patient-focused care as clinical genetic applications for common, complex disorders evolve. Participants completed a survey addressing: the importance of genetic counseling topics, benefits and negative effects of genetic testing, and sharing test results. Topics addressing practical information about genetic conditions were rated most important; topics involving conceptual genetic/genomic principles were rated least important. The most frequently identified benefit and negative effect of testing were prevention/early detection/treatment and psychological distress. Participants perceived that they were more likely to share test results with first-degree than other relatives. Findings suggest providing patients with practical information about genetic testing and genetic contributions to disease, while also determining whether their self-care abilities would be enhanced by teaching genetic/genomic principles. Copyright © 2014 Elsevier Inc. All rights reserved.

  11. Towards a genetic architecture of cryptic genetic variation

    Indian Academy of Sciences (India)

    Home; Journals; Journal of Genetics; Volume 84; Issue 3. Towards a genetic architecture of cryptic genetic variation and genetic assimilation: the contribution of K. G. Bateman. Ian Dworkin. Commentary on J. Genet. Classic Volume 84 Issue 3 December 2005 pp 223-226 ...

  12. Incidence of Infestation and Larval Success of Emerald Ash Borer (Agrilus planipennis) on White Fringetree (Chionanthus virginicus), Chinese Fringetree (Chionanthus retusus), and Devilwood (Osmanthus americanus).

    Science.gov (United States)

    Cipollini, Don; Rigsby, Chad M

    2015-10-01

    We compared the incidence of infestation by emerald ash borer (EAB) and lilac borer on white fringetree to that of its Asian congener, Chinese fringetree, Chionanthus retusus, and a North American relative, devilwood, Osmanthus americanus. We also conducted laboratory bioassays to determine the suitability of these hosts for EAB larvae. At Spring Grove Cemetery and Arboretum in Cincinnati, Ohio, 9 of 28 white fringetrees examined were infested by EAB. Most of the white fringetrees had lilac borer infestation, and most of the trees infested by EAB also had lilac borer infestation. None of the 11 Chinese fringetrees examined were infested by either EAB or lilac borer. Each of the five devilwood individuals examined was infested by lilac borer, but not EAB. At The Morton Arboretum in Lisle, Illinois, 7 of 16 white fringetrees examined were infested by EAB, while none of the seven Chinese fringetrees examined were infested by either insect. A 40-d bioassay confirmed that white fringetree was an acceptable host, producing fourth-instar larvae that were smaller than those produced on a highly susceptible cultivar of green ash, Fraxinus pennsylvanica. No larvae survived on Chinese fringetree, and neonates were largely incapable of feeding on it. Two larvae survived on devilwood, reaching the second instar and excavating extensive galleries. Future work should be aimed at biotic and abiotic factors influencing the susceptibility of white fringetree, as well as further examination of close relatives for their vulnerability to EAB. © The Authors 2015. Published by Oxford University Press on behalf of Entomological Society of America. All rights reserved. For Permissions, please email: journals.permissions@oup.com.

  13. Genetic privacy.

    Science.gov (United States)

    Sankar, Pamela

    2003-01-01

    During the past 10 years, the number of genetic tests performed more than tripled, and public concern about genetic privacy emerged. The majority of states and the U.S. government have passed regulations protecting genetic information. However, research has shown that concerns about genetic privacy are disproportionate to known instances of information misuse. Beliefs in genetic determinacy explain some of the heightened concern about genetic privacy. Discussion of the debate over genetic testing within families illustrates the most recent response to genetic privacy concerns.

  14. Styrax americanus Lam.

    Science.gov (United States)

    K.F Connor

    2004-01-01

    American snowbell, also known as mock orange or storax, is a deciduous shrub or small tree with a widely branched crown. It reaches 3 to 5 m in height, and the stems can reach 7.5 cm in diameter. While the bark on the stems is smooth and dark grey to brown, branches range in color from green to grey to red-brown. Young stems are pubescent, becoming glabrous with age....

  15. From Genetics to Genetic Algorithms

    Indian Academy of Sciences (India)

    Genetic algorithms (GAs) are computational optimisation schemes with an ... The algorithms solve optimisation problems ..... Genetic Algorithms in Search, Optimisation and Machine. Learning, Addison-Wesley Publishing Company, Inc. 1989.

  16. Substrate-Driven Convergence of the Microbial Community in Lignocellulose-Amended Enrichments of Gut Microflora from the Canadian Beaver (Castor canadensis) and North American Moose (Alces americanus).

    Science.gov (United States)

    Wong, Mabel T; Wang, Weijun; Lacourt, Michael; Couturier, Marie; Edwards, Elizabeth A; Master, Emma R

    2016-01-01

    Strategic enrichment of microcosms derived from wood foragers can facilitate the discovery of key microbes that produce enzymes for the bioconversion of plant fiber (i.e., lignocellulose) into valuable chemicals and energy. In this study, lignocellulose-degrading microorganisms from the digestive systems of Canadian beaver (Castor canadensis) and North American moose (Alces americanus) were enriched under methanogenic conditions for over 3 years using various wood-derived substrates, including (i) cellulose (C), (ii) cellulose + lignosulphonate (CL), (iii) cellulose + tannic acid (CT), and (iv) poplar hydrolysate (PH). Substantial improvement in the conversion of amended organic substrates into biogas was observed in both beaver dropping and moose rumen enrichment cultures over the enrichment phases (up to 0.36-0.68 ml biogas/mg COD added), except for enrichments amended with tannic acid where conversion was approximately 0.15 ml biogas/mg COD added. Multiplex-pyrosequencing of 16S rRNA genes revealed systematic shifts in the population of Firmicutes, Bacteroidetes, Chlorobi, Spirochaetes, Chloroflexi, and Elusimicrobia in response to the enrichment. These shifts were predominantly substrate driven, not inoculum driven, as revealed by both UPGMA clustering pattern and OTU distribution. Additionally, the relative abundance of multiple OTUs from poorly defined taxonomic lineages increased from less than 1% to 25-50% in microcosms amended with lignocellulosic substrates, including OTUs from classes SJA-28, Endomicrobia, orders Bacteroidales, OPB54, and family Lachnospiraceae. This study provides the first direct comparison of shifts in microbial communities that occurred in different environmental samples in response to multiple relevant lignocellulosic carbon sources, and demonstrates the potential of enrichment to increase the abundance of key lignocellulolytic microorganisms and encoded activities.

  17. About Genetic Counselors

    Science.gov (United States)

    ... clinical care in many areas of medicine. Assisted Reproductive Technology/Infertility Genetics Cancer Genetics Cardiovascular Genetics Cystic Fibrosis Genetics Fetal Intervention and Therapy Genetics Hematology Genetics Metabolic Genetics ...

  18. Genetic algorithms

    Science.gov (United States)

    Wang, Lui; Bayer, Steven E.

    1991-01-01

    Genetic algorithms are mathematical, highly parallel, adaptive search procedures (i.e., problem solving methods) based loosely on the processes of natural genetics and Darwinian survival of the fittest. Basic genetic algorithms concepts are introduced, genetic algorithm applications are introduced, and results are presented from a project to develop a software tool that will enable the widespread use of genetic algorithm technology.

  19. Permanent genetic resources added to Molecular Ecology Resources Database 1 December 2011-31 January 2012.

    Science.gov (United States)

    Arias, M C; Arnoux, E; Bell, James J; Bernadou, Abel; Bino, Giorgia; Blatrix, R; Bourguet, Denis; Carrea, Cecilia; Clamens, Anne-Laure; Cunha, Haydée A; d'Alençon, E; Ding, Yi; Djieto-Lordon, C; Dubois, M P; Dumas, P; Eraud, C; Faivre, B; Francisco, F O; Françoso, E; Garcia, M; Gardner, Jonathan P A; Garnier, S; Gimenez, S; Gold, John R; Harris, D J; He, Guangcun; Hellemans, B; Hollenbeck, Christopher M; Jing, Shengli; Kergoat, G J; Liu, Bingfang; McDowell, Jan R; McKey, D; Miller, Terrence L; Newton, Erica; Pagenkopp Lohan, Katrina M; Papetti, Chiara; Paterson, Ian; Peccoud, J; Peng, Xinxin; Piatscheck, F; Ponsard, Sergine; Reece, Kimberly S; Reisser, Céline M O; Renshaw, Mark A; Ruzzante, Daniel E; Sauve, M; Shields, Jeffrey D; Solé-Cava, Antonio; Souche, E L; Van Houdt, J K J; Vasconcellos, Anderson; Volckaert, F A M; Wang, Shuzhen; Xiao, Jie; Yu, Hangjin; Zane, Lorenzo; Zannato, Barbara; Zemlak, Tyler S; Zhang, Chunxiao; Zhao, Yan; Zhou, Xi; Zhu, Lili

    2012-05-01

    This article documents the addition of 473 microsatellite marker loci and 71 pairs of single-nucleotide polymorphism (SNP) sequencing primers to the Molecular Ecology Resources Database. Loci were developed for the following species: Barteria fistulosa, Bombus morio, Galaxias platei, Hematodinium perezi, Macrocentrus cingulum Brischke (a.k.a. M. abdominalis Fab., M. grandii Goidanich or M. gifuensis Ashmead), Micropogonias furnieri, Nerita melanotragus, Nilaparvata lugens Stål, Sciaenops ocellatus, Scomber scombrus, Spodoptera frugiperda and Turdus lherminieri. These loci were cross-tested on the following species: Barteria dewevrei, Barteria nigritana, Barteria solida, Cynoscion acoupa, Cynoscion jamaicensis, Cynoscion leiarchus, Cynoscion nebulosus, Cynoscion striatus, Cynoscion virescens, Macrodon ancylodon, Menticirrhus americanus, Nilaparvata muiri and Umbrina canosai. This article also documents the addition of 116 sequencing primer pairs for Dicentrarchus labrax. © 2012 Blackwell Publishing Ltd.

  20. In Search of Entrepreneurial Learning

    DEFF Research Database (Denmark)

    Henriques, Christine Thalsgård

    opportunity to study how the interactions between technology-based entrepreneurs and an Accelerator programme may lead to increased entrepreneurial capacity, learning and growth. The Industrial PhD setting offers privileged access to entrepreneurs, advisors, incubator management and investors, and we get......The world wants more entrepreneurs so badly, that it has become a major priority of governments all over the world trying to produce them. Based on Industrial PhD collaboration between the Danish Science Park, Symbion A/S and Copenhagen Business School, this dissertation presents a unique...... - is originally intended as a forum that is shielded off from the everydayness of things, with the purpose of adding resources and removing barriers to venture creation. The idea is that entrepreneuring actors will be offered complementary resources and forced to spend time on planning and strategies...

  1. From Genetics to Genetic Algorithms

    Indian Academy of Sciences (India)

    artificial genetic system) string feature or ... called the genotype whereas it is called a structure in artificial genetic ... assigned a fitness value based on the cost function. Better ..... way it has produced complex, intelligent living organisms capable of ...

  2. Reverse genetics with animal viruses. NSV reverse genetics

    International Nuclear Information System (INIS)

    Mebatsion, T.

    2005-01-01

    New strategies to genetically manipulate the genomes of several important animal pathogens have been established in recent years. This article focuses on the reverse genetics techniques, which enables genetic manipulation of the genomes of non-segmented negative-sense RNA viruses. Recovery of a negative-sense RNA virus entirely from cDNA was first achieved for rabies virus in 1994. Since then, reverse genetic systems have been established for several pathogens of medical and veterinary importance. Based on the reverse genetics technique, it is now possible to design safe and more effective live attenuated vaccines against important viral agents. In addition, genetically tagged recombinant viruses can be designed to facilitate serological differentiation of vaccinated animals from infected animals. The approach of delivering protective immunogens of different pathogens using a single vector was made possible with the introduction of the reverse genetics system, and these novel broad-spectrum vaccine vectors have potential applications in improving animal health in developing countries. (author)

  3. Experiencing the genetic body: parents' encounters with pediatric clinical genetics.

    Science.gov (United States)

    Raspberry, Kelly; Skinner, Debra

    2007-01-01

    Because of advancements in genetic research and technologies, the clinical practice of genetics is becoming a prevalent component of biomedicine. As the genetic basis for more and more diseases are found, it is possible that ways of experiencing health, illness, identity, kin relations, and the body are becoming geneticized, or understood within a genetic model of disease. Yet, other models and relations that go beyond genetic explanations also shape interpretations of health and disease. This article explores how one group of individuals for whom genetic disorder is highly relevant formulates their views of the body in light of genetic knowledge. Using data from an ethnographic study of 106 parents or potential parents of children with known or suspected genetic disorders who were referred to a pediatric genetic counseling and evaluation clinic in the southeastern United States, we find that these parents do, to some degree, perceive of their children's disorders in terms of a genetic body that encompasses two principal qualities: a sense of predetermined health and illness and an awareness of a profound historicity that reaches into the past and extends into the present and future. They experience this genetic body as both fixed and historical, but they also express ideas of a genetic body made less deterministic by their own efforts and future possibilities. This account of parents' experiences with genetics and clinical practice contributes to a growing body of work on the ways in which genetic information and technologies are transforming popular and medical notions of the body, and with it, health, illness, kinship relations, and personal and social identities.

  4. "What is this genetics, anyway?" Understandings of genetics, illness causality and inheritance among British Pakistani users of genetic services.

    Science.gov (United States)

    Shaw, Alison; Hurst, Jane A

    2008-08-01

    Misconceptions about basic genetic concepts and inheritance patterns may be widespread in the general population. This paper investigates understandings of genetics, illness causality and inheritance among British Pakistanis referred to a UK genetics clinic. During participant observation of genetics clinic consultations and semi-structured interviews in Urdu or English in respondents' homes, we identified an array of environmental, behavioral and spiritual understandings of the causes of medical and intellectual problems. Misconceptions about the location of genetic information in the body and of genetic mechanisms of inheritance were common, reflected the range of everyday theories observed for White British patients and included the belief that a child receives more genetic material from the father than the mother. Despite some participants' conversational use of genetic terminology, some patients had assimilated genetic information in ways that conflict with genetic theory with potentially serious clinical consequences. Additionally, skepticism of genetic theories of illness reflected a rejection of a dominant discourse of genetic risk that stigmatizes cousin marriages. Patients referred to genetics clinics may not easily surrender their lay or personal theories about the causes of their own or their child's condition and their understandings of genetic risk. Genetic counselors may need to identify, work with and at times challenge patients' understandings of illness causality and inheritance.

  5. Discovery and description of a new trichostrongyloid species (Nematoda: Ostertagiinae), abomasal parasites in mountain goat, Oreamnos americanus, from the Western Cordillera of North America.

    Science.gov (United States)

    Hoberg, Eric P; Abrams, Arthur; Pilitt, Patricia A; Jenkins, Emily J

    2012-08-01

    Marshallagia lichtenfelsi sp. n. is a dimorphic ostertagiine nematode occurring in the abomasum of mountain goats, Oreamnos americanus, from the Western Cordillera of North America. Major and minor morphotype males and females are characterized and distinguished relative to the morphologically similar Marshallagia marshalli / Marshallagia occidentalis from North America and Marshallagia dentispicularis, along with other congeners, from the Palearctic region. The configuration of the convoluted and irregular synlophe in the cervical region of males and females of M. lichtenfelsi is apparently unique, contrasting with a continuous and parallel system of ridges among those species of Marshallagia, including M. marshalli/M. occidentalis, which have been evaluated. Specimens of M. lichtenfelsi are further defined by the rectangular form of the accessory bursal membrane (width > length) in the major morphotype and by the trapezoidal Sjöberg's organ in the minor morphotype, in addition to specific attributes of the spicules and spicule tips. We regard 12 species, including the proposed new taxon, to be valid. Primary diagnostic characters are reviewed for Marshallagia and a framework is presented for standardization of future descriptions incorporating the synlophe in males and females and the structure of the spicules and genital cone in major and minor morphotype males. The center of diversity for species of Marshallagia is the mountain-steppe region of central Eurasia where 11 species (including the Holarctic M. marshalli) are recognized in association with Caprini, Rupicaprini, and Antelopinae; only 2 species occur in the Nearctic. In this assemblage, M. lichtenfelsi is endemic to North America and limited in host distribution to mountain goats. An intricate history for refugial isolation and population fragmentation demonstrated for mountain goats and wild sheep indicates the potential for considerable cryptic diversity for Marshallagia and other nematodes. Shifting

  6. Feline genetics: clinical applications and genetic testing.

    Science.gov (United States)

    Lyons, Leslie A

    2010-11-01

    DNA testing for domestic cat diseases and appearance traits is a rapidly growing asset for veterinary medicine. Approximately 33 genes contain 50 mutations that cause feline health problems or alterations in the cat's appearance. A variety of commercial laboratories can now perform cat genetic diagnostics, allowing both the veterinary clinician and the private owner to obtain DNA test results. DNA is easily obtained from a cat via a buccal swab with a standard cotton bud or cytological brush, allowing DNA samples to be easily sent to any laboratory in the world. The DNA test results identify carriers of the traits, predict the incidence of traits from breeding programs, and influence medical prognoses and treatments. An overall goal of identifying these genetic mutations is the correction of the defect via gene therapies and designer drug therapies. Thus, genetic testing is an effective preventative medicine and a potential ultimate cure. However, genetic diagnostic tests may still be novel for many veterinary practitioners and their application in the clinical setting needs to have the same scrutiny as any other diagnostic procedure. This article will review the genetic tests for the domestic cat, potential sources of error for genetic testing, and the pros and cons of DNA results in veterinary medicine. Highlighted are genetic tests specific to the individual cat, which are a part of the cat's internal genome. Copyright © 2010 Elsevier Inc. All rights reserved.

  7. [Current options of preimplantion genetic screening and preimplantation genetic diagnostics].

    Science.gov (United States)

    Šimečková, V

    The aim of this work is to summarize the current knowledge about preimplantation genetic screening and diagnostics. A review article. Department of Gynecology and Obstetrics, District Hospital Šternberk, IVF Clinic, Olomouc. Preimplantation genetic testing is a complex of genetic and molecular cytogenetic examinations, which can help to detect abnormalities in embryos before transfer into the uterus of the mother. These specialized examinations are based on the latest findings in genetics and assisted reproduction. The preimplantation genetic testing is necessarily associated with a method of in vitro fertilization. It is performed on isolated blastomeres on the third day of embryo cultivation. Nowadays, it is preferred trophectoderm examination of cells from the five-day blastocysts. Generally speaking, after preimplantation genetic testing, we can select only embryos without genetic load to transfer into uterus. Preimplantation genetic testing is an important part of treatment of infertility. Complex diagnostics and treatment of infertile couples are increasingly influenced by the development and use of advanced genomic technologies. Further development and application of these modern methods require close cooperation between the field of assisted reproduction and clinical genetics.

  8. Genetic Mapping

    Science.gov (United States)

    ... greatly advanced genetics research. The improved quality of genetic data has reduced the time required to identify a ... cases, a matter of months or even weeks. Genetic mapping data generated by the HGP's laboratories is freely accessible ...

  9. Genetic Engineering and the Amelioration of Genetic Defect

    Science.gov (United States)

    Lederberg, Joshua

    1970-01-01

    Discusses the claims for a brave new world of genetic manipulation" and concludes that if we could agree upon applying genetic (or any other effective) remedies to global problems we probably would need no rescourse to them. Suggests that effective methods of preventing genetic disease are prevention of mutations and detection and…

  10. 50. Brazilian congress on genetics. 50 years developing genetics. Abstracts

    International Nuclear Information System (INIS)

    2004-01-01

    Use of radioisotopes and ionizing radiations in genetics is presented. Several aspects related to men, animals,plants and microorganisms are reported highlighting biological radiation effects, evolution, mutagenesis and genetic engineering. Genetic mapping, gene mutations, genetic diversity, DNA damages, plant cultivation and plant grow are studied as well

  11. Genetics educational needs in China: physicians' experience and knowledge of genetic testing.

    Science.gov (United States)

    Li, Jing; Xu, Tengda; Yashar, Beverly M

    2015-09-01

    The aims of this study were to explore the relationship between physicians' knowledge and utilization of genetic testing and to explore genetics educational needs in China. An anonymous survey about experience, attitudes, and knowledge of genetic testing was conducted among physicians affiliated with Peking Union Medical College Hospital during their annual health evaluation. A personal genetics knowledge score was developed and predictors of personal genetics knowledge score were evaluated. Sixty-four physicians (33% male) completed the survey. Fifty-eight percent of them had used genetic testing in their clinical practice. Using a 4-point scale, mean knowledge scores of six common genetic testing techniques ranged from 1.7 ± 0.9 to 2.4 ± 1.0, and the average personal genetics knowledge score was 2.1 ± 0.8. In regression analysis, significant predictors of higher personal genetics knowledge score were ordering of genetic testing, utilization of pedigrees, higher medical degree, and recent genetics training (P education. This study demonstrated a sizable gap between Chinese physicians' knowledge and utilization of genetic testing. Participants had high self-perceived genetics educational needs. Development of genetics educational platforms is both warranted and desired in China.Genet Med 17 9, 757-760.

  12. Contemporary Genetics for Gender Researchers: Not Your Grandma's Genetics Anymore

    Science.gov (United States)

    Salk, Rachel H.; Hyde, Janet S.

    2012-01-01

    Over the past century, much of genetics was deterministic, and feminist researchers framed justified criticisms of genetics research. However, over the past two decades, genetics research has evolved remarkably and has moved far from earlier deterministic approaches. Our article provides a brief primer on modern genetics, emphasizing contemporary…

  13. Non-amidated and amidated members of the C-type allatostatin (AST-C) family are differentially distributed in the stomatogastric nervous system of the American lobster, Homarus americanus.

    Science.gov (United States)

    Christie, Andrew E; Miller, Alexandra; Fernandez, Rebecca; Dickinson, Evyn S; Jordan, Audrey; Kohn, Jessica; Youn, Mina C; Dickinson, Patsy S

    2018-01-13

    The crustacean stomatogastric nervous system (STNS) is a well-known model for investigating neuropeptidergic control of rhythmic behavior. Among the peptides known to modulate the STNS are the C-type allatostatins (AST-Cs). In the lobster, Homarus americanus, three AST-Cs are known. Two of these, pQIRYHQCYFNPISCF (AST-C I) and GNGDGRLYWRCYFNAVSCF (AST-C III), have non-amidated C-termini, while the third, SYWKQCAFNAVSCFamide (AST-C II), is C-terminally amidated. Here, antibodies were generated against one of the non-amidated peptides (AST-C I) and against the amidated isoform (AST-C II). Specificity tests show that the AST-C I antibody cross-reacts with both AST-C I and AST-C III, but not AST-C II; the AST-C II antibody does not cross-react with either non-amidated peptide. Wholemount immunohistochemistry shows that both subclasses (non-amidated and amidated) of AST-C are distributed throughout the lobster STNS. Specifically, the antibody that cross-reacts with the two non-amidated peptides labels neuropil in the CoGs and the stomatogastric ganglion (STG), axons in the superior esophageal (son) and stomatogastric (stn) nerves, and ~ 14 somata in each commissural ganglion (CoG). The AST-C II-specific antibody labels neuropil in the CoGs, STG and at the junction of the sons and stn, axons in the sons and stn, ~ 42 somata in each CoG, and two somata in the STG. Double immunolabeling shows that, except for one soma in each CoG, the non-amidated and amidated peptides are present in distinct sets of neuronal profiles. The differential distributions of the two AST-C subclasses suggest that the two peptide groups are likely to serve different modulatory roles in the lobster STNS.

  14. J. Genet. classic 101

    Indian Academy of Sciences (India)

    Journal of Genetics, Vol. 85, No. 2, August 2006. 101. Page 2. J. Genet. classic. 102. Journal of Genetics, Vol. 85, No. 2, August 2006. Page 3. J. Genet. classic. Journal of Genetics, Vol. 85, No. 2, August 2006. 103. Page 4. J. Genet. classic. 104. Journal of Genetics, Vol. 85, No. 2, August 2006. Page 5. J. Genet. classic.

  15. J. Genet. classic 37

    Indian Academy of Sciences (India)

    Unknown

    Journal of Genetics, Vol. 84, No. 1, April 2005. 37. Page 2. J. Genet. classic. Journal of Genetics, Vol. 84, No. 1, April 2005. 38. Page 3. J. Genet. classic. Journal of Genetics, Vol. 84, No. 1, April 2005. 39. Page 4. J. Genet. classic. Journal of Genetics, Vol. 84, No. 1, April 2005. 40. Page 5. J. Genet. classic. Journal of ...

  16. A Comparison of Telephone Genetic Counseling and In-Person Genetic Counseling from the Genetic Counselor's Perspective.

    Science.gov (United States)

    Burgess, Kelly R; Carmany, Erin P; Trepanier, Angela M

    2016-02-01

    Growing demand for and limited geographic access to genetic counseling services is increasing the need for alternative service delivery models (SDM) like telephone genetic counseling (TGC). Little research has been done on genetic counselors' perspectives of the practice of TGC. We created an anonymous online survey to assess whether telephone genetic counselors believed the tasks identified in the ABGC (American Board of Genetic Counseling) Practice Analysis were performed similarly or differently in TGC compared to in person genetic counseling (IPGC). If there were differences noted, we sought to determine the nature of the differences and if additional training might be needed to address them. Eighty eight genetic counselors with experience in TGC completed some or all of the survey. Respondents identified differences in 13 (14.8%) of the 88 tasks studied. The tasks identified as most different in TGC were: "establishing rapport through verbal and nonverbal interactions" (60.2%; 50/83 respondents identified the task as different), "recognizing factors affecting the counseling interaction" (47.8%; 32/67), "assessing client/family emotions, support, etc." (40.1%; 27/66) and "educating clients about basic genetic concepts" (35.6%; 26/73). A slight majority (53.8%; 35/65) felt additional training was needed to communicate information without visual aids and more effectively perform psychosocial assessments. In summary, although a majority of genetic counseling tasks are performed similarly between TGC and IPGC, TGC counselors recognize that specific training in the TGC model may be needed to address the key differences.

  17. Downstream collecting in ciliary suspension feeders: the catch-up principle

    DEFF Research Database (Denmark)

    Riisgård, Hans Ulrik; Nielsen, Claus; Larsen, Poul Scheel

    2000-01-01

    -size retention spectrum, the lower limit depends on spacing between cilia in phase, while the upper end depends on cilia length which may or may not allow particles to enter the ciliary region. On the basis of fluid mechanical considerations and literature descriptions of structure and function of the ciliary......Based on observations of feeding structures and currents in the polychaete Spirorbis tridentatus, the entoproct Loxosoma pectinaricola and the cycliophore Symbion pandora, which all possess compound cilia, it is hypothesized that their capture mechanism is based on the catch-up principle. According...... to this principle, the compound cilia constitute the pump which generates a flow with suspended particles that enters the ciliary region. In this region the same cilia, during their power stroke, catch up with suspended particles and transfer the particles to a food groove, or a mouth cavity. In the particle...

  18. Genetic information, non-discrimination, and privacy protections in genetic counseling practice.

    Science.gov (United States)

    Prince, Anya E R; Roche, Myra I

    2014-12-01

    The passage of the Genetic Information Non Discrimination Act (GINA) was hailed as a pivotal achievement that was expected to calm the fears of both patients and research participants about the potential misuse of genetic information. However, 6 years later, patient and provider awareness of legal protections at both the federal and state level remains discouragingly low, thereby, limiting their potential effectiveness. The increasing demand for genetic testing will expand the number of individuals and families who could benefit from obtaining accurate information about the privacy and anti-discriminatory protections that GINA and other laws extend. In this paper we describe legal protections that are applicable to individuals seeking genetic counseling, review the literature on patient and provider fears of genetic discrimination and examine their awareness and understandings of existing laws, and summarize how genetic counselors currently discuss genetic discrimination. We then present three genetic counseling cases to illustrate issues of genetic discrimination and provide relevant information on applicable legal protections. Genetic counselors have an unprecedented opportunity, as well as the professional responsibility, to disseminate accurate knowledge about existing legal protections to their patients. They can strengthen their effectiveness in this role by achieving a greater knowledge of current protections including being able to identify specific steps that can help protect genetic information.

  19. Exploring Relationships Among Belief in Genetic Determinism, Genetics Knowledge, and Social Factors

    Science.gov (United States)

    Gericke, Niklas; Carver, Rebecca; Castéra, Jérémy; Evangelista, Neima Alice Menezes; Marre, Claire Coiffard; El-Hani, Charbel N.

    2017-12-01

    Genetic determinism can be described as the attribution of the formation of traits to genes, where genes are ascribed more causal power than what scientific consensus suggests. Belief in genetic determinism is an educational problem because it contradicts scientific knowledge, and is a societal problem because it has the potential to foster intolerant attitudes such as racism and prejudice against sexual orientation. In this article, we begin by investigating the very nature of belief in genetic determinism. Then, we investigate whether knowledge of genetics and genomics is associated with beliefs in genetic determinism. Finally, we explore the extent to which social factors such as gender, education, and religiosity are associated with genetic determinism. Methodologically, we gathered and analyzed data on beliefs in genetic determinism, knowledge of genetics and genomics, and social variables using the "Public Understanding and Attitudes towards Genetics and Genomics" (PUGGS) instrument. Our analyses of PUGGS responses from a sample of Brazilian university freshmen undergraduates indicated that (1) belief in genetic determinism was best characterized as a construct built up by two dimensions or belief systems: beliefs concerning social traits and beliefs concerning biological traits; (2) levels of belief in genetic determination of social traits were low, which contradicts prior work; (3) associations between knowledge of genetics and genomics and levels of belief in genetic determinism were low; and (4) social factors such as age and religiosity had stronger associations with beliefs in genetic determinism than knowledge. Although our study design precludes causal inferences, our results raise questions about whether enhancing genetic literacy will decrease or prevent beliefs in genetic determinism.

  20. J. Genet. classic 235

    Indian Academy of Sciences (India)

    Unknown

    Journal of Genetics, Vol. 83, No. 3, December 2004. 235. Page 2. J. Genet. classic. Journal of Genetics, Vol. 83, No. 3, December 2004. 236. Page 3. J. Genet. classic. Journal of Genetics, Vol. 83, No. 3, December 2004. 237. Page 4. J. Genet. classic. Journal of Genetics, Vol. 83, No. 3, December 2004. 238. Page 5 ...

  1. Genetic counseling and the ethical issues around direct to consumer genetic testing.

    Science.gov (United States)

    Hawkins, Alice K; Ho, Anita

    2012-06-01

    Over the last several years, direct to consumer(DTC) genetic testing has received increasing attention in the public, healthcare and academic realms. DTC genetic testing companies face considerable criticism and scepticism,particularly from the medical and genetic counseling community. This raises the question of what specific aspects of DTC genetic testing provoke concerns, and conversely,promises, for genetic counselors. This paper addresses this question by exploring DTC genetic testing through an ethic allens. By considering the fundamental ethical approaches influencing genetic counseling (the ethic of care and principle-based ethics) we highlight the specific ethical concerns raised by DTC genetic testing companies. Ultimately,when considering the ethics of DTC testing in a genetic counseling context, we should think of it as a balancing act. We need careful and detailed consideration of the risks and troubling aspects of such testing, as well as the potentially beneficial direct and indirect impacts of the increased availability of DTC genetic testing. As a result it is essential that genetic counselors stay informed and involved in the ongoing debate about DTC genetic testing and DTC companies. Doing so will ensure that the ethical theories and principles fundamental to the profession of genetic counseling are promoted not just in traditional counseling sessions,but also on a broader level. Ultimately this will help ensure that the public enjoys the benefits of an increasingly genetic based healthcare system.

  2. Employability of genetic counselors with a PhD in genetic counseling.

    Science.gov (United States)

    Wallace, Jody P; Myers, Melanie F; Huether, Carl A; Bedard, Angela C; Warren, Nancy Steinberg

    2008-06-01

    The development of a PhD in genetic counseling has been discussed for more than 20 years, yet the perspectives of employers have not been assessed. The goal of this qualitative study was to gain an understanding of the employability of genetic counselors with a PhD in genetic counseling by conducting interviews with United States employers of genetic counselors. Study participants were categorized according to one of the following practice areas: academic, clinical, government, industry, laboratory, or research. All participants were responsible for hiring genetic counselors in their institutions. Of the 30 employers interviewed, 23 envisioned opportunities for individuals with a PhD degree in genetic counseling, particularly in academic and research settings. Performing research and having the ability to be a principal investigator on a grant was the primary role envisioned for these individuals by 22/30 participants. Employers expect individuals with a PhD in genetic counseling to perform different roles than MS genetic counselors with a master's degree. This study suggests there is an employment niche for individuals who have a PhD in genetic counseling that complements, and does not compete with, master's prepared genetic counselors.

  3. [The role of the genetics history in genetics teaching].

    Science.gov (United States)

    Li, Ming-Hui

    2006-08-01

    The research of the scientific history and development status reflect the science and technology level of a nation. The genetic history is one of the branches of the life science and the 21st century is life science century. The genetics history in the teaching of genetics not only can help students get familiar with the birth and development of genetics, but also enhance their thinking ability and scientific qualities. The roles and approaches of teaching are discussed in this paper.

  4. Seroepidemiologic study on the prevalence of Toxoplasma gondii and Trichinella spp. infections in black bears (Ursus americanus) in Pennsylvania, USA.

    Science.gov (United States)

    Dubey, Jitender P; Brown, Justin; Ternent, Mark; Verma, Shiv K; Hill, Dolores E; Cerqueira-Cézar, Camila K; Kwok, Oliver C H; Calero-Bernal, Rafael; Humphreys, Jan G

    2016-10-15

    The protozoan Toxoplasma gondii and the metazoan Trichinella spp. infect virtually all warm-blooded animals, including birds, humans, livestock, and marine mammals. Both parasitic infections can cause serious illness in human beings and can be acquired by ingesting under-cooked meat harboring infective stages. Approximately 3500 black bears (Ursus americanus) are legally-harvested each year in Pennsylvania, USA during the November hunting season. Among animals found infected with T. gondii, the prevalence of T. gondii is the highest among black bears in the USA; however, little is currently known of epidemiology of toxoplasmosis in this host species. Serum samples were collected during the winters of 2015 and 2016 from adult female bears and their nursing cubs or yearlings while they were still in their dens. Additionally, archived sera from bear samples collected throughout the year, including hunter-harvested bears in November and trapped bears in the summer, were serologically tested. Antibodies to T. gondii were assayed by the modified agglutination test (MAT, cut-off 1:25) and antibodies to Trichinella spp. were assayed using a commercial enzyme-linked immunosorbent assay (ELISA). Overall, T. gondii antibodies were found in 87.6% (206/235) of adults, and 44.1% (30/68) of yearlings. In March 2015/2016 sampling, antibodies to T. gondii were found in 94% (30/32) adult female bears while in their den. Antibodies were detected in 5% (3/66) of the nursing cubs in the dens of these sows. One positive cub had a MAT titer of 1:160 and two were positive at the 1:25 dilution but not at 1:50. The adult females of these cubs had MAT titers ranging from 1:400 to 1:3200. Antibodies to Trichinella spp. were found in 3% (6/181) of adults and 3.6% (1/28) of yearlings; these 7 bears were also seropositive for T. gondii. No antibodies to Trichinella spp. were detected in the sera of 44 nursing cubs tested. The finding of T. gondii antibodies in only 3 of 66 cubs, and higher

  5. Genetic secrets: Protecting privacy and confidentiality in the genetic era

    Energy Technology Data Exchange (ETDEWEB)

    Rothstein, M.A. [ed.

    1998-07-01

    Few developments are likely to affect human beings more profoundly in the long run than the discoveries resulting from advances in modern genetics. Although the developments in genetic technology promise to provide many additional benefits, their application to genetic screening poses ethical, social, and legal questions, many of which are rooted in issues of privacy and confidentiality. The ethical, practical, and legal ramifications of these and related questions are explored in depth. The broad range of topics includes: the privacy and confidentiality of genetic information; the challenges to privacy and confidentiality that may be projected to result from the emerging genetic technologies; the role of informed consent in protecting the confidentiality of genetic information in the clinical setting; the potential uses of genetic information by third parties; the implications of changes in the health care delivery system for privacy and confidentiality; relevant national and international developments in public policies, professional standards, and laws; recommendations; and the identification of research needs.

  6. Genetics in the art and art in genetics.

    Science.gov (United States)

    Bukvic, Nenad; Elling, John W

    2015-01-15

    "Healing is best accomplished when art and science are conjoined, when body and spirit are probed together", says Bernard Lown, in his book "The Lost Art of Healing". Art has long been a witness to disease either through diseases which affected artists or diseases afflicting objects of their art. In particular, artists have often portrayed genetic disorders and malformations in their work. Sometimes genetic disorders have mystical significance; other times simply have intrinsic interest. Recognizing genetic disorders is also an art form. From the very beginning of my work as a Medical Geneticist I have composed personal "algorithms" to piece together evidence of genetics syndromes and diseases from the observable signs and symptoms. In this paper we apply some 'gestalt' Genetic Syndrome Diagnostic algorithms to virtual patients found in some art masterpieces. In some the diagnosis is clear and in others the artists' depiction only supports a speculative differential diagnosis. Copyright © 2014 Elsevier B.V. All rights reserved.

  7. Analysis of conditional genetic effects and variance components in developmental genetics.

    Science.gov (United States)

    Zhu, J

    1995-12-01

    A genetic model with additive-dominance effects and genotype x environment interactions is presented for quantitative traits with time-dependent measures. The genetic model for phenotypic means at time t conditional on phenotypic means measured at previous time (t-1) is defined. Statistical methods are proposed for analyzing conditional genetic effects and conditional genetic variance components. Conditional variances can be estimated by minimum norm quadratic unbiased estimation (MINQUE) method. An adjusted unbiased prediction (AUP) procedure is suggested for predicting conditional genetic effects. A worked example from cotton fruiting data is given for comparison of unconditional and conditional genetic variances and additive effects.

  8. Genetics, health care, and public policy: an introduction to public health genetics

    National Research Council Canada - National Science Library

    Stewart, Alison

    2007-01-01

    ... initiative About this book Further reading and resources Principles of public health The emergence of public health genetics The human genome project and 'genomic medicine' Community genetics Current developments in public health genetics Genomics and global health 2 Genetic science and technology Basic molecular genetics Genes and the geno...

  9. Genetic testing in the epilepsies—Report of the ILAE Genetics Commission

    OpenAIRE

    Ottman, Ruth; Hirose, Shinichi; Jain, Satish; Lerche, Holger; Lopes-Cendes, Iscia; Noebels, Jeffrey L.; Serratosa, José; Zara, Federico; Scheffer, Ingrid E.

    2010-01-01

    In this report, the International League Against Epilepsy (ILAE) Genetics Commission discusses essential issues to be considered with regard to clinical genetic testing in the epilepsies. Genetic research on the epilepsies has led to the identification of more than 20 genes with a major effect on susceptibility to idiopathic epilepsies. The most important potential clinical application of these discoveries is genetic testing: the use of genetic information, either to clarify the diagnosis in ...

  10. Molecular Population Genetics.

    Science.gov (United States)

    Casillas, Sònia; Barbadilla, Antonio

    2017-03-01

    Molecular population genetics aims to explain genetic variation and molecular evolution from population genetics principles. The field was born 50 years ago with the first measures of genetic variation in allozyme loci, continued with the nucleotide sequencing era, and is currently in the era of population genomics. During this period, molecular population genetics has been revolutionized by progress in data acquisition and theoretical developments. The conceptual elegance of the neutral theory of molecular evolution or the footprint carved by natural selection on the patterns of genetic variation are two examples of the vast number of inspiring findings of population genetics research. Since the inception of the field, Drosophila has been the prominent model species: molecular variation in populations was first described in Drosophila and most of the population genetics hypotheses were tested in Drosophila species. In this review, we describe the main concepts, methods, and landmarks of molecular population genetics, using the Drosophila model as a reference. We describe the different genetic data sets made available by advances in molecular technologies, and the theoretical developments fostered by these data. Finally, we review the results and new insights provided by the population genomics approach, and conclude by enumerating challenges and new lines of inquiry posed by increasingly large population scale sequence data. Copyright © 2017 Casillas and Barbadilla.

  11. Knowledge of Genetics and Attitudes toward Genetic Testing among College Students in Saudi Arabia.

    Science.gov (United States)

    Olwi, Duaa; Merdad, Leena; Ramadan, Eman

    2016-01-01

    Genetic testing has been gradually permeating the practice of medicine. Health-care providers may be confronted with new genetic approaches that require genetically informed decisions which will be influenced by patients' knowledge of genetics and their attitudes toward genetic testing. This study assesses the knowledge of genetics and attitudes toward genetic testing among college students. A cross-sectional study was conducted using a multistage stratified sample of 920 senior college students enrolled at King Abdulaziz University, Saudi Arabia. Information regarding knowledge of genetics, attitudes toward genetic testing, and sociodemographic data were collected using a self-administered questionnaire. In general, students had a good knowledge of genetics but lacked some fundamentals of genetics. The majority of students showed positive attitudes toward genetic testing, but some students showed negative attitudes toward certain aspects of genetic testing such as resorting to abortion in the case of an untreatable major genetic defect in an unborn fetus. The main significant predictors of knowledge were faculty, gender, academic year, and some prior awareness of 'genetic testing'. The main significant predictors of attitudes were gender, academic year, grade point average, and some prior awareness of 'genetic testing'. The knowledge of genetics among college students was higher than has been reported in other studies, and the attitudes toward genetic testing were fairly positive. Genetics educational programs that target youths may improve knowledge of genetics and create a public perception that further supports genetic testing. © 2016 S. Karger AG, Basel.

  12. Feeding patterns of migratory and non-migratory fourth instar larvae of two coexisting Chaoborus species in an acidic and metal contaminated lake: Importance of prey ingestion rate in predicting metal bioaccumulation

    Science.gov (United States)

    Croteau, M.-N.; Hare, L.; Marcoux, P.

    2003-01-01

    We studied diel variations in the feeding habits and migratory behaviors of two coexisting Chaoborus species in an acidic and metal contaminated lake (Lake Turcotte, QC, Canada). We found that although the zooplankton community was dominated by rotifers, both Chaoborus species fed mostly on chironomids and crustaceans despite the relatively low abundance of these prey types in the lake plankton. Chaoborus americanus larvae fed on those of Chaoborus punctipennis, but not vice versa. The non-migratory species (C. americanus) fed throughout the day and night whereas the migratory species (C. punctipennis) fed only at night while in the water column. The larger-bodied C. americanus consumed more prey and had a more diverse diet than did the smaller-bodied C. punctipennis. Differences in feeding habits between the Chaoborus species inhabiting Lake Turcotte (prey biomass, prey types) likely explain in part their ability to coexist. Attempts to predict Cd in the Chaoborus species using our measurements of Cd in their prey and their prey ingestion rates met with mixed success; although we correctly predicted higher Cd concentrations for C. americanus larvae than for C. punctipennis larvae, we under-predicted absolute Cd concentrations. We suggest that studies such as ours that are based on analyses of gut contents of larvae collected at intervals of 4h or longer likely underestimate prey ingestion rates.

  13. Preimplantation genetic screening.

    Science.gov (United States)

    Harper, Joyce C

    2018-03-01

    Preimplantation genetic diagnosis was first successfully performed in 1989 as an alternative to prenatal diagnosis for couples at risk of transmitting a genetic or chromosomal abnormality, such as cystic fibrosis, to their child. From embryos generated in vitro, biopsied cells are genetically tested. From the mid-1990s, this technology has been employed as an embryo selection tool for patients undergoing in vitro fertilisation, screening as many chromosomes as possible, in the hope that selecting chromosomally normal embryos will lead to higher implantation and decreased miscarriage rates. This procedure, preimplantation genetic screening, was initially performed using fluorescent in situ hybridisation, but 11 randomised controlled trials of screening using this technique showed no improvement in in vitro fertilisation delivery rates. Progress in genetic testing has led to the introduction of array comparative genomic hybridisation, quantitative polymerase chain reaction, and next generation sequencing for preimplantation genetic screening, and three small randomised controlled trials of preimplantation genetic screening using these new techniques indicate a modest benefit. Other trials are still in progress but, regardless of their results, preimplantation genetic screening is now being offered globally. In the near future, it is likely that sequencing will be used to screen the full genetic code of the embryo.

  14. Selfish genetic elements, genetic conflict, and evolutionary innovation.

    Science.gov (United States)

    Werren, John H

    2011-06-28

    Genomes are vulnerable to selfish genetic elements (SGEs), which enhance their own transmission relative to the rest of an individual's genome but are neutral or harmful to the individual as a whole. As a result, genetic conflict occurs between SGEs and other genetic elements in the genome. There is growing evidence that SGEs, and the resulting genetic conflict, are an important motor for evolutionary change and innovation. In this review, the kinds of SGEs and their evolutionary consequences are described, including how these elements shape basic biological features, such as genome structure and gene regulation, evolution of new genes, origin of new species, and mechanisms of sex determination and development. The dynamics of SGEs are also considered, including possible "evolutionary functions" of SGEs.

  15. Cryptic Genetic Variation in Evolutionary Developmental Genetics

    Directory of Open Access Journals (Sweden)

    Annalise B. Paaby

    2016-06-01

    Full Text Available Evolutionary developmental genetics has traditionally been conducted by two groups: Molecular evolutionists who emphasize divergence between species or higher taxa, and quantitative geneticists who study variation within species. Neither approach really comes to grips with the complexities of evolutionary transitions, particularly in light of the realization from genome-wide association studies that most complex traits fit an infinitesimal architecture, being influenced by thousands of loci. This paper discusses robustness, plasticity and lability, phenomena that we argue potentiate major evolutionary changes and provide a bridge between the conceptual treatments of macro- and micro-evolution. We offer cryptic genetic variation and conditional neutrality as mechanisms by which standing genetic variation can lead to developmental system drift and, sheltered within canalized processes, may facilitate developmental transitions and the evolution of novelty. Synthesis of the two dominant perspectives will require recognition that adaptation, divergence, drift and stability all depend on similar underlying quantitative genetic processes—processes that cannot be fully observed in continuously varying visible traits.

  16. Protecting genetic privacy.

    Science.gov (United States)

    Roche, P A; Annas, G J

    2001-05-01

    This article outlines the arguments for and against new rules to protect genetic privacy. We explain why genetic information is different to other sensitive medical information, why researchers and biotechnology companies have opposed new rules to protect genetic privacy (and favour anti-discrimination laws instead), and discuss what can be done to protect privacy in relation to genetic-sequence information and to DNA samples themselves.

  17. Variación morfométrica intra e interespecífica entre poblaciones de Odontophrynus (Anura: Cycloramphidae del área central de Argentina Intraand inter-specific morphometric variation between Odontophrynus populations (Anura: Cycloramphidae of central Argentina

    Directory of Open Access Journals (Sweden)

    Pablo Raúl Grenat

    2012-12-01

    Full Text Available El análisis morfométrico ha servido como apoyo para explicar fenómenos ecológicos y evolutivos y para la clasificación de nuevas especies. Nosotros realizamos el análisis morfométrico de dos especies morfológicamente crípticas con el objeto de evaluar el grado de diferenciación intra e interespecífica. Se midieron 15 variables sobre 211 individuos pertenecientes a 18 localidades del centro de Argentina. Se encontró dimorfismo sexual en seis variables morfométricas en Odontophrynus cordobae y en tres variables en O. americanus. Se encontraron diferencias significativas entre especies en seis variables. El análisis discriminante incluyendo los individuos de todas las poblaciones relevadas para O. cordobae y O. americanus, mostró una clasificación positiva de los individuos dentro de su respectiva especie del 76.37%. En el análisis discriminante realizado con base en cuatro grupos (O. cordobae alopátrico y sintópico y O. americanus alopátrico y sintópico se obtuvo una reclasificación de los individuos dentro de cada grupo del 73.45%. Las diferencias morfométricas entre especies fueron mayores en sintopía. Los resultados se alejan de los resultados esperados bajo la hipótesis del desplazamiento de caracteres y podrían sugerir que los caracteres morfológicos externos no tendrían una influencia importante en el reconocimiento y elección de machos coespecíficos por parte de las hembrasMorphometric analyses are particularly important, and for many years they have supported evolutionary and ecological phenomena, and have been useful for the classification of new species, mainly to the lowest taxonomic levels. In order to assess the degree of sexual dimorphism, the intra-specific morphometric variation and the inter-specific morphological differences, we performed morphometric analyses of two morphologically cryptic species, Odontophrynus cordobae (diploid and O. americanus (tetraploid. For this, we measured 15 morphometric

  18. The genetic difference principle.

    Science.gov (United States)

    Farrelly, Colin

    2004-01-01

    In the newly emerging debates about genetics and justice three distinct principles have begun to emerge concerning what the distributive aim of genetic interventions should be. These principles are: genetic equality, a genetic decent minimum, and the genetic difference principle. In this paper, I examine the rationale of each of these principles and argue that genetic equality and a genetic decent minimum are ill-equipped to tackle what I call the currency problem and the problem of weight. The genetic difference principle is the most promising of the three principles and I develop this principle so that it takes seriously the concerns of just health care and distributive justice in general. Given the strains on public funds for other important social programmes, the costs of pursuing genetic interventions and the nature of genetic interventions, I conclude that a more lax interpretation of the genetic difference principle is appropriate. This interpretation stipulates that genetic inequalities should be arranged so that they are to the greatest reasonable benefit of the least advantaged. Such a proposal is consistent with prioritarianism and provides some practical guidance for non-ideal societies--that is, societies that do not have the endless amount of resources needed to satisfy every requirement of justice.

  19. Preimplantation Genetic Screening and Preimplantation Genetic Diagnosis.

    Science.gov (United States)

    Sullivan-Pyke, Chantae; Dokras, Anuja

    2018-03-01

    Preimplantation genetic testing encompasses preimplantation genetic screening (PGS) and preimplantation genetic diagnosis (PGD). PGS improves success rates of in vitro fertilization by ensuring the transfer of euploid embryos that have a higher chance of implantation and resulting in a live birth. PGD enables the identification of embryos with specific disease-causing mutations and transfer of unaffected embryos. The development of whole genome amplification and genomic tools, including single nucleotide polymorphism microarrays, comparative genomic hybridization microarrays, and next-generation sequencing, has led to faster, more accurate diagnoses that translate to improved pregnancy and live birth rates. Copyright © 2017 Elsevier Inc. All rights reserved.

  20. Cancer Genetics Services Directory

    Science.gov (United States)

    ... Services Directory Cancer Prevention Overview Research NCI Cancer Genetics Services Directory This directory lists professionals who provide services related to cancer genetics (cancer risk assessment, genetic counseling, genetic susceptibility testing, ...

  1. Genetic data for groundfish - Genetics and genomics of northeastern Pacific groundfish

    Data.gov (United States)

    National Oceanic and Atmospheric Administration, Department of Commerce — Conduct genetic analyses of groundfish in the northeastern Pacific, with a focus on population genetics and genomics of rockfishes and sablefish. Genetic data for...

  2. Prenatal screening and genetics

    DEFF Research Database (Denmark)

    Alderson, P; Aro, A R; Dragonas, T

    2001-01-01

    Although the term 'genetic screening' has been used for decades, this paper discusses how, in its most precise meaning, genetic screening has not yet been widely introduced. 'Prenatal screening' is often confused with 'genetic screening'. As we show, these terms have different meanings, and we...... examine definitions of the relevant concepts in order to illustrate this point. The concepts are i) prenatal, ii) genetic screening, iii) screening, scanning and testing, iv) maternal and foetal tests, v) test techniques and vi) genetic conditions. So far, prenatal screening has little connection...... with precisely defined genetics. There are benefits but also disadvantages in overstating current links between them in the term genetic screening. Policy making and professional and public understandings about screening could be clarified if the distinct meanings of prenatal screening and genetic screening were...

  3. Genetics Home Reference

    Science.gov (United States)

    ... Page Search Home Health Conditions Genes Chromosomes & mtDNA Resources Help Me Understand Genetics Share: Email Facebook Twitter Genetics Home Reference provides consumer-friendly information about the effects of genetic variation on human health. Health Conditions More than 1,200 health ...

  4. [Genetics factors in pathogenesis and clinical genetics of binge eating disorder].

    Science.gov (United States)

    Kibitov, А О; Мazo, G E

    2016-01-01

    Genetic studies have shown that binge eating disorder (ВЕD) aggregates in families, heritability was estimated as about 60% and additive genetic influences on BED up to 50%. Using a genetic approach has proved useful for verifying the diagnostic categories of BED using DSM-IV criteria and supporting the validity of considering this pathology as a separate nosological category. The results confirmed the genetic and pathogenic originality of BED as a separate psychopathological phenomenon, but not a subtype of obesity. It seems fruitful to considerate BED as a disease with hereditary predisposition with significant genetic influence and a complex psychopathological syndrome, including not only eating disorders, but also depressive and addictive component. A possible mechanism of pathogenesis of BED may be the interaction of the neuroendocrine and neurotransmitters systems including the active involvement of the reward system in response to a variety of chronic stress influences with the important modulatory role of specific personality traits. The high level of genetic influence on the certain clinical manifestations of BED confirms the ability to identify the subphenotypes of BED on genetic basis involving clinical criteria. It can not only contribute to further genetic studies, taking into account more homogeneous samples, but also help in finding differentiated therapeutic approaches.

  5. Stocking the genetic supermarket: reproductive genetic technologies and collective action problems.

    Science.gov (United States)

    Gyngell, Chris; Douglas, Thomas

    2015-05-01

    Reproductive genetic technologies (RGTs) allow parents to decide whether their future children will have or lack certain genetic predispositions. A popular model that has been proposed for regulating access to RGTs is the 'genetic supermarket'. In the genetic supermarket, parents are free to make decisions about which genes to select for their children with little state interference. One possible consequence of the genetic supermarket is that collective action problems will arise: if rational individuals use the genetic supermarket in isolation from one another, this may have a negative effect on society as a whole, including future generations. In this article we argue that RGTs targeting height, innate immunity, and certain cognitive traits could lead to collective action problems. We then discuss whether this risk could in principle justify state intervention in the genetic supermarket. We argue that there is a plausible prima facie case for the view that such state intervention would be justified and respond to a number of arguments that might be adduced against that view. © 2014 The Authors. Bioethics published by John Wiley & Sons Ltd.

  6. Detection of Genetically Modified Food: Has Your Food Been Genetically Modified?

    Science.gov (United States)

    Brandner, Diana L.

    2002-01-01

    Explains the benefits and risks of genetically-modified foods and describes methods for genetically modifying food. Presents a laboratory experiment using a polymerase chain reaction (PCR) test to detect foreign DNA in genetically-modified food. (Contains 18 references.) (YDS)

  7. Abstracts of the 48. Brazilian congress on genetics. Genetics in social inclusion

    International Nuclear Information System (INIS)

    2002-01-01

    Use of radioisotopes and ionizing radiations in genetics is presented. Several aspects related to men, animals, plants and microorganisms are reported highlighting biological radiation effects, evolution, mutagenesis and genetic engineering. Genetic mapping, polymerase chain reaction, gene mutations, genetic diversity, DNA hybridization, DNA sequencing, plant cultivation and plant grow are studied as well

  8. Genetic Testing and Its Implications: Human Genetics Researchers Grapple with Ethical Issues.

    Science.gov (United States)

    Rabino, Isaac

    2003-01-01

    Contributes systematic data on the attitudes of scientific experts who engage in human genetics research about the pros, cons, and ethical implications of genetic testing. Finds that they are highly supportive of voluntary testing and the right to know one's genetic heritage. Calls for greater genetic literacy. (Contains 87 references.) (Author/NB)

  9. On Gene Concepts and Teaching Genetics: Episodes from Classical Genetics

    Science.gov (United States)

    Burian, Richard M.

    2013-02-01

    This paper addresses the teaching of advanced high school courses or undergraduate courses for non-biology majors about genetics or history of genetics. It will probably be difficult to take the approach described here in a high school science course, although the general approach could help improve such courses. It would be ideal for a college course in history of genetics or a course designed to teach non-science majors how science works or the rudiments of the genetics in a way that will help them as citizens. The approach aims to teach the processes of discovery, correction, and validation by utilizing illustrative episodes from the history of genetics. The episodes are treated in way that should foster understanding of basic questions about genes, the sorts of techniques used to answer questions about the constitution and structure of genes, how they function, and what they determine, and some of the major biological disagreements that arose in dealing with these questions. The material covered here could be connected to social and political issues raised by genetics, but these connections are not surveyed here. As it is, to cover this much territory, the article is limited to four major episodes from Mendel's paper to the beginning of World War II. A sequel will deal with the molecularization of genetics and with molecular gene concepts through the Human Genome Project.

  10. Genetics education for non-genetic health care professionals in the Netherlands

    NARCIS (Netherlands)

    Plass, Anne Marie C.; Baars, Marieke J. H.; Beemer, Frits A.; ten Kate, Leo P.

    2006-01-01

    OBJECTIVE: The aim of the present study was to investigate whether medical care providers in the Netherlands are adequately educated in genetics by collecting information about the current state of genetics education of non-genetics health care professionals. METHOD: The curricula of the 8

  11. Reassessing insurers' access to genetic information: genetic privacy, ignorance, and injustice.

    Science.gov (United States)

    Feiring, Eli

    2009-06-01

    Many countries have imposed strict regulations on the genetic information to which insurers have access. Commentators have warned against the emerging body of legislation for different reasons. This paper demonstrates that, when confronted with the argument that genetic information should be available to insurers for health insurance underwriting purposes, one should avoid appeals to rights of genetic privacy and genetic ignorance. The principle of equality of opportunity may nevertheless warrant restrictions. A choice-based account of this principle implies that it is unfair to hold people responsible for the consequences of the genetic lottery, since we have no choice in selecting our genotype or the expression of it. However appealing, this view does not take us all the way to an adequate justification of inaccessibility of genetic information. A contractarian account, suggesting that health is a condition of opportunity and that healthcare is an essential good, seems more promising. I conclude that if or when predictive medical tests (such as genetic tests) are developed with significant actuarial value, individuals have less reason to accept as fair institutions that limit access to healthcare on the grounds of risk status. Given the assumption that a division of risk pools in accordance with a rough estimate of people's level of (genetic) risk will occur, fairness and justice favour universal health insurance based on solidarity.

  12. Basic concepts of medical genetics, formal genetics, Part 1

    African Journals Online (AJOL)

    Mohammad Saad Zaghloul Salem

    2013-11-15

    Nov 15, 2013 ... maps of gene loci based on information gathered, formerly, ... represented as figure or text interface data. Relevant ... The Egyptian Journal of Medical Human Genetics ... prophylactic management and genetic counseling. 17.

  13. Genetic secrets: Protecting privacy and confidentiality in the genetic era. Final report

    Energy Technology Data Exchange (ETDEWEB)

    Rothstein, M.A. [ed.

    1998-09-01

    Few developments are likely to affect human beings more profoundly in the long run than the discoveries resulting from advances in modern genetics. Although the developments in genetic technology promise to provide many additional benefits, their application to genetic screening poses ethical, social, and legal questions, many of which are rooted in issues of privacy and confidentiality. The ethical, practical, and legal ramifications of these and related questions are explored in depth. The broad range of topics includes: the privacy and confidentiality of genetic information; the challenges to privacy and confidentiality that may be projected to result from the emerging genetic technologies; the role of informed consent in protecting the confidentiality of genetic information in the clinical setting; the potential uses of genetic information by third parties; the implications of changes in the health care delivery system for privacy and confidentiality; relevant national and international developments in public policies, professional standards, and laws; recommendations; and the identification of research needs.

  14. Radiation induced mutants in elite genetic background for the augmentation of genetic diversity

    International Nuclear Information System (INIS)

    Kumar, V.; Bhagwat, S.G.

    2011-01-01

    Rice (Oryza sativa L.), an important food crop for India, shows large genetic diversity. However, despite the large genetic resource, high genetic similarity is reported in cultivated varieties indicating genetic erosion. Radiation induced mutations provide genetic variability in elite background. In the present study, twenty gamma ray induced mutants of rice variety WL112 (carrying sd-1 semi-dwarfing gene) were analysed for genetic diversity using microsatellite markers. The high range of genetic diversity among mutants indicated that the mutants possess potential for enhancing variability in rice. Cluster analysis showed presence of five clusters having small sub-clusters. Earliness, semi-dwarf stature or resistance to blast disease observed among the mutants showed that these will be useful in breeding programmes. (author)

  15. Genetics of nonsyndromic obesity.

    Science.gov (United States)

    Lee, Yung Seng

    2013-12-01

    Common obesity is widely regarded as a complex, multifactorial trait influenced by the 'obesogenic' environment, sedentary behavior, and genetic susceptibility contributed by common and rare genetic variants. This review describes the recent advances in understanding the role of genetics in obesity. New susceptibility loci and genetic variants are being uncovered, but the collective effect is relatively small and could not explain most of the BMI heritability. Yet-to-be identified common and rare variants, epistasis, and heritable epigenetic changes may account for part of the 'missing heritability'. Evidence is emerging about the role of epigenetics in determining obesity susceptibility, mediating developmental plasticity, which confers obesity risk from early life experiences. Genetic prediction scores derived from selected genetic variants, and also differential DNA methylation levels and methylation scores, have been shown to correlate with measures of obesity and response to weight loss intervention. Genetic variants, which confer susceptibility to obesity-related morbidities like nonalcoholic fatty liver disease, were also discovered recently. We can expect discovery of more rare genetic variants with the advent of whole exome and genome sequencing, and also greater understanding of epigenetic mechanisms by which environment influences genetic expression and which mediate the gene-environment interaction.

  16. What Is Genetic Ancestry Testing?

    Science.gov (United States)

    ... What is genetic ancestry testing? What is genetic ancestry testing? Genetic ancestry testing, or genetic genealogy, is ... with other groups. For more information about genetic ancestry testing: The University of Utah provides video tutorials ...

  17. Genetic aspects of pathological gambling: a complex disorder with shared genetic vulnerabilities.

    Science.gov (United States)

    Lobo, Daniela S S; Kennedy, James L

    2009-09-01

    To summarize and discuss findings from genetic studies conducted on pathological gambling (PG). Searches were conducted on PubMed and PsychInfo databases using the keywords: 'gambling and genes', 'gambling and family' and 'gambling and genetics', yielding 18 original research articles investigating the genetics of PG. Twin studies using the Vietnam Era Twin Registry have found that: (i) the heritability of PG is estimated to be 50-60%; (ii) PG and subclinical PG are a continuum of the same disorder; (iii) PG shares genetic vulnerability factors with antisocial behaviours, alcohol dependence and major depressive disorder; (iv) genetic factors underlie the association between exposure to traumatic life-events and PG. Molecular genetic investigations on PG are at an early stage and published studies have reported associations with genes involved in the brain's reward and impulse control systems. Despite the paucity of studies in this area, published studies have provided considerable evidence of the influence of genetic factors on PG and its complex interaction with other psychiatric disorders and environmental factors. The next step would be to investigate the association and interaction of these variables in larger molecular genetic studies with subphenotypes that underlie PG. Results from family and genetic investigations corroborate further the importance of understanding the biological underpinnings of PG in the development of more specific treatment and prevention strategies.

  18. Cognitive Development, Genetics Problem Solving, and Genetics Instruction: A Critical Review.

    Science.gov (United States)

    Smith, Mike U.; Sims, O. Suthern, Jr.

    1992-01-01

    Review of literature concerning problem solving in genetics and Piagetian stage theory. Authors conclude the research suggests that formal-operational thought is not strictly required for the solution of the majority of classical genetics problems; however, some genetic concepts are difficult for concrete operational students to understand.…

  19. The Virtual Genetics Lab II: Improvements to a Freely Available Software Simulation of Genetics

    Science.gov (United States)

    White, Brian T.

    2012-01-01

    The Virtual Genetics Lab II (VGLII) is an improved version of the highly successful genetics simulation software, the Virtual Genetics Lab (VGL). The software allows students to use the techniques of genetic analysis to design crosses and interpret data to solve realistic genetics problems involving a hypothetical diploid insect. This is a brief…

  20. Genetic testing in the epilepsies—Report of the ILAE Genetics Commission

    Science.gov (United States)

    Ottman, Ruth; Hirose, Shinichi; Jain, Satish; Lerche, Holger; Lopes-Cendes, Iscia; Noebels, Jeffrey L.; Serratosa, José; Zara, Federico; Scheffer, Ingrid E.

    2010-01-01

    SUMMARY In this report, the International League Against Epilepsy (ILAE) Genetics Commission discusses essential issues to be considered with regard to clinical genetic testing in the epilepsies. Genetic research on the epilepsies has led to the identification of more than 20 genes with a major effect on susceptibility to idiopathic epilepsies. The most important potential clinical application of these discoveries is genetic testing: the use of genetic information, either to clarify the diagnosis in people already known or suspected to have epilepsy (diagnostic testing), or to predict onset of epilepsy in people at risk because of a family history (predictive testing). Although genetic testing has many potential benefits, it also has potential harms, and assessment of these potential benefits and harms in particular situations is complex. Moreover, many treating clinicians are unfamiliar with the types of tests available, how to access them, how to decide whether they should be offered, and what measures should be used to maximize benefit and minimize harm to their patients. Because the field is moving rapidly, with new information emerging practically every day, we present a framework for considering the clinical utility of genetic testing that can be applied to many different syndromes and clinical contexts. Given the current state of knowledge, genetic testing has high0020clinical utility in few clinical contexts, but in some of these it carries implications for daily clinical practice. PMID:20100225

  1. Genetic parameters and estimated genetic gains in young rubber tree progenies

    Directory of Open Access Journals (Sweden)

    Cecília Khusala Verardi

    2013-04-01

    Full Text Available The objective of this work was to assess the genetic parameters and to estimate genetic gains in young rubber tree progenies. The experiments were carried out during three years, in a randomized block design, with six replicates and ten plants per plot, in three representative Hevea crop regions of the state of São Paulo, Brazil. Twenty-two progenies were evaluated, from three to five years old, for rubber yield and annual girth growth. Genetic gain was estimated with the multi-effect index (MEI. Selection by progenies means provided greater estimated genetic gain than selection based on individuals, since heritability values of progeny means were greater than the ones of individual heritability, for both evaluated variables, in all the assessment years. The selection of the three best progenies for rubber yield provided a selection gain of 1.28 g per plant. The genetic gains estimated with MEI using data from early assessments (from 3 to 5-year-old were generally high for annual girth growth and rubber yield. The high genetic gains for annual girth growth in the first year of assessment indicate that progenies can be selected at the beginning of the breeding program. Population effective size was consistent with the three progenies selected, showing that they were not related and that the population genetic variability is ensured. Early selection with the genetic gains estimated by MEI can be made on rubber tree progenies.

  2. Molecular genetics made simple

    Directory of Open Access Journals (Sweden)

    Heba Sh. Kassem

    2012-07-01

    Full Text Available Genetics have undoubtedly become an integral part of biomedical science and clinical practice, with important implications in deciphering disease pathogenesis and progression, identifying diagnostic and prognostic markers, as well as designing better targeted treatments. The exponential growth of our understanding of different genetic concepts is paralleled by a growing list of genetic terminology that can easily intimidate the unfamiliar reader. Rendering genetics incomprehensible to the clinician however, defeats the very essence of genetic research: its utilization for combating disease and improving quality of life. Herein we attempt to correct this notion by presenting the basic genetic concepts along with their usefulness in the cardiology clinic. Bringing genetics closer to the clinician will enable its harmonious incorporation into clinical care, thus not only restoring our perception of its simple and elegant nature, but importantly ensuring the maximal benefit for our patients.

  3. Molecular genetics made simple

    Science.gov (United States)

    Kassem, Heba Sh.; Girolami, Francesca; Sanoudou, Despina

    2012-01-01

    Abstract Genetics have undoubtedly become an integral part of biomedical science and clinical practice, with important implications in deciphering disease pathogenesis and progression, identifying diagnostic and prognostic markers, as well as designing better targeted treatments. The exponential growth of our understanding of different genetic concepts is paralleled by a growing list of genetic terminology that can easily intimidate the unfamiliar reader. Rendering genetics incomprehensible to the clinician however, defeats the very essence of genetic research: its utilization for combating disease and improving quality of life. Herein we attempt to correct this notion by presenting the basic genetic concepts along with their usefulness in the cardiology clinic. Bringing genetics closer to the clinician will enable its harmonious incorporation into clinical care, thus not only restoring our perception of its simple and elegant nature, but importantly ensuring the maximal benefit for our patients. PMID:25610837

  4. Genetic Resources in the “Calabaza Pipiana” Squash (Cucurbita argyrosperma) in Mexico: Genetic Diversity, Genetic Differentiation and Distribution Models

    Science.gov (United States)

    Sánchez-de la Vega, Guillermo; Castellanos-Morales, Gabriela; Gámez, Niza; Hernández-Rosales, Helena S.; Vázquez-Lobo, Alejandra; Aguirre-Planter, Erika; Jaramillo-Correa, Juan P.; Montes-Hernández, Salvador; Lira-Saade, Rafael; Eguiarte, Luis E.

    2018-01-01

    Analyses of genetic variation allow understanding the origin, diversification and genetic resources of cultivated plants. Domesticated taxa and their wild relatives are ideal systems for studying genetic processes of plant domestication and their joint is important to evaluate the distribution of their genetic resources. Such is the case of the domesticated subspecies C. argyrosperma ssp. argyrosperma, known in Mexico as calabaza pipiana, and its wild relative C. argyrosperma ssp. sororia. The main aim of this study was to use molecular data (microsatellites) to assess the levels of genetic variation and genetic differentiation within and among populations of domesticated argyrosperma across its distribution in Mexico in comparison to its wild relative, sororia, and to identify environmental suitability in previously proposed centers of domestication. We analyzed nine unlinked nuclear microsatellite loci to assess levels of diversity and distribution of genetic variation within and among populations in 440 individuals from 19 populations of cultivated landraces of argyrosperma and from six wild populations of sororia, in order to conduct a first systematic analysis of their genetic resources. We also used species distribution models (SDMs) for sororia to identify changes in this wild subspecies’ distribution from the Holocene (∼6,000 years ago) to the present, and to assess the presence of suitable environmental conditions in previously proposed domestication sites. Genetic variation was similar among subspecies (HE = 0.428 in sororia, and HE = 0.410 in argyrosperma). Nine argyrosperma populations showed significant levels of inbreeding. Both subspecies are well differentiated, and genetic differentiation (FST) among populations within each subspecies ranged from 0.152 to 0.652. Within argyrosperma we found three genetic groups (Northern Mexico, Yucatan Peninsula, including Michoacan and Veracruz, and Pacific coast plus Durango). We detected low levels of gene

  5. Genetic Resources in the “Calabaza Pipiana” Squash (Cucurbita argyrosperma in Mexico: Genetic Diversity, Genetic Differentiation and Distribution Models

    Directory of Open Access Journals (Sweden)

    Guillermo Sánchez-de la Vega

    2018-03-01

    Full Text Available Analyses of genetic variation allow understanding the origin, diversification and genetic resources of cultivated plants. Domesticated taxa and their wild relatives are ideal systems for studying genetic processes of plant domestication and their joint is important to evaluate the distribution of their genetic resources. Such is the case of the domesticated subspecies C. argyrosperma ssp. argyrosperma, known in Mexico as calabaza pipiana, and its wild relative C. argyrosperma ssp. sororia. The main aim of this study was to use molecular data (microsatellites to assess the levels of genetic variation and genetic differentiation within and among populations of domesticated argyrosperma across its distribution in Mexico in comparison to its wild relative, sororia, and to identify environmental suitability in previously proposed centers of domestication. We analyzed nine unlinked nuclear microsatellite loci to assess levels of diversity and distribution of genetic variation within and among populations in 440 individuals from 19 populations of cultivated landraces of argyrosperma and from six wild populations of sororia, in order to conduct a first systematic analysis of their genetic resources. We also used species distribution models (SDMs for sororia to identify changes in this wild subspecies’ distribution from the Holocene (∼6,000 years ago to the present, and to assess the presence of suitable environmental conditions in previously proposed domestication sites. Genetic variation was similar among subspecies (HE = 0.428 in sororia, and HE = 0.410 in argyrosperma. Nine argyrosperma populations showed significant levels of inbreeding. Both subspecies are well differentiated, and genetic differentiation (FST among populations within each subspecies ranged from 0.152 to 0.652. Within argyrosperma we found three genetic groups (Northern Mexico, Yucatan Peninsula, including Michoacan and Veracruz, and Pacific coast plus Durango. We detected low

  6. Genetic Romanticism

    DEFF Research Database (Denmark)

    Tupasela, Aaro

    2016-01-01

    inheritance as a way to unify populations within politically and geographically bounded areas. Thus, new genetics have contributed to the development of genetic romanticisms, whereby populations (human, plant, and animal) can be delineated and mobilized through scientific and medical practices to represent...

  7. Possible people, complaints, and the distinction between genetic planning and genetic engineering.

    Science.gov (United States)

    Delaney, James J

    2011-07-01

    Advances in the understanding of genetics have led to the belief that it may become possible to use genetic engineering to manipulate the DNA of humans at the embryonic stage to produce certain desirable traits. Although this currently cannot be done on a large scale, many people nevertheless object in principle to such practices. Most often, they argue that genetic enhancements would harm the children who were engineered, cause societal harms, or that the risks of perfecting the procedures are too high to proceed. However, many of these same people do not have serious objections to what is called 'genetic planning' procedures (such as the selection of sperm donors with desirable traits) that essentially have the same ends. The author calls the view that genetic engineering enhancements are impermissible while genetic planning enhancements are permissible the 'popular view', and argues that the typical reasons people give for the popular view fail to distinguish the two practices. This paper provides a principle that can salvage the popular view, which stresses that offspring from genetic engineering practices have grounds for complaint because they are identical to the pre-enhanced embryo, whereas offspring who are the result of genetic planning have no such grounds.

  8. Prospect of Induced Pluripotent Stem Cell Genetic Repair to Cure Genetic Diseases

    Directory of Open Access Journals (Sweden)

    Jeanne Adiwinata Pawitan

    2012-01-01

    Full Text Available In genetic diseases, where the cells are already damaged, the damaged cells can be replaced by new normal cells, which can be differentiated from iPSC. To avoid immune rejection, iPSC from the patient’s own cell can be developed. However, iPSC from the patients’s cell harbors the same genetic aberration. Therefore, before differentiating the iPSCs into required cells, genetic repair should be done. This review discusses the various technologies to repair the genetic aberration in patient-derived iPSC, or to prevent the genetic aberration to cause further damage in the iPSC-derived cells, such as Zn finger and TALE nuclease genetic editing, RNA interference technology, exon skipping, and gene transfer method. In addition, the challenges in using the iPSC and the strategies to manage the hurdles are addressed.

  9. Towards a genetic architecture of cryptic genetic variation and ...

    Indian Academy of Sciences (India)

    Unknown

    reprinted in this issue as a J. Genet. classic, pages 227–257). IAN DWORKIN* ... In this commentary, I will discuss the context of this work examining the genetic ... mental buffering where development was channelled in one of several ...

  10. Influence of genetic discrimination perceptions and knowledge on cancer genetics referral practice among clinicians.

    Science.gov (United States)

    Lowstuter, Katrina J; Sand, Sharon; Blazer, Kathleen R; MacDonald, Deborah J; Banks, Kimberly C; Lee, Carol A; Schwerin, Barbara U; Juarez, Margaret; Uman, Gwen C; Weitzel, Jeffrey N

    2008-09-01

    To describe nongenetics clinicians' perceptions and knowledge of cancer genetics and laws prohibiting genetic discrimination, attitudes toward the use of cancer genetic testing, and referral practices. Invitations to participate were sent to a random stratified sample of California Medical Association members and to all members of California Association of Nurse Practitioners and California Latino Medical Association. Responders in active practice were eligible and completed a 47-item survey. There were 1181 qualified participants (62% physicians). Although 96% viewed genetic testing as beneficial for their patients, 75% believed fear of genetic discrimination would cause patients to decline testing. More than 60% were not aware of federal or California laws prohibiting health insurance discrimination--concern about genetic discrimination was selected as a reason for nonreferral by 11%. A positive attitude toward genetic testing was the strongest predictor of referral (odds ratio: 3.55 [95% confidence interval: 2.24-5.63], P genetic discrimination, the less likely a participant was to refer (odds ratio: 0.72 [95% confidence interval: 0.518-0.991], P genetic discrimination law was associated with comfort recommending (odds ratio: 1.18 [95% confidence interval: 1.11-1.25], P genetic discrimination and knowledge deficits may be barriers to cancer genetics referrals. Clinician education may help promote access to cancer screening and prevention.

  11. Genetic Engineering

    Science.gov (United States)

    Phillips, John

    1973-01-01

    Presents a review of genetic engineering, in which the genotypes of plants and animals (including human genotypes) may be manipulated for the benefit of the human species. Discusses associated problems and solutions and provides an extensive bibliography of literature relating to genetic engineering. (JR)

  12. Inspirations in medical genetics.

    Science.gov (United States)

    Asadollahi, Reza

    2016-02-01

    There are abundant instances in the history of genetics and medical genetics to illustrate how curiosity, charisma of mentors, nature, art, the saving of lives and many other matters have inspired great discoveries. These achievements from deciphering genetic concepts to characterizing genetic disorders have been crucial for management of the patients. There remains, however, a long pathway ahead. © The Author(s) 2014.

  13. Genetic conservation and paddlefish propagation

    Science.gov (United States)

    Sloss, Brian L.; Klumb, Robert A.; Heist, Edward J.

    2009-01-01

    The conservation of genetic diversity of our natural resources is overwhelmingly one of the central foci of 21st century management practices. Three recommendations related to the conservation of paddlefish Polyodon spathula genetic diversity are to (1) identify genetic diversity at both nuclear and mitochondrial DNA loci using a suggested list of 20 sampling locations, (2) use genetic diversity estimates to develop genetic management units, and (3) identify broodstock sources to minimize effects of supplemental stocking on the genetic integrity of native paddlefish populations. We review previous genetic work on paddlefish and described key principles and concepts associated with maintaining genetic diversity within and among paddlefish populations and also present a genetic case study of current paddlefish propagation at the U.S. Fish and Wildlife Service Gavins Point National Fish Hatchery. This study confirmed that three potential sources of broodfish were genetically indistinguishable at the loci examined, allowing the management agencies cooperating on this program flexibility in sampling gametes. This study also showed significant bias in the hatchery occurred in terms of male reproductive contribution, which resulted in a shift in the genetic diversity of progeny compared to the broodfish. This shift was shown to result from differential male contributions, partially attributed to the mode of egg fertilization. Genetic insights enable implementation of a paddlefish propagation program within an adaptive management strategy that conserves inherent genetic diversity while achieving demographic goals.

  14. GM1-gangliosidosis in American black bears: clinical, pathological, biochemical and molecular genetic characterization.

    Science.gov (United States)

    Muthupalani, Sureshkumar; Torres, Paola A; Wang, Betty C; Zeng, Bai Jin; Eaton, Samuel; Erdelyi, Ildiko; Ducore, Rebecca; Maganti, Rajanikarath; Keating, John; Perry, Bain J; Tseng, Florina S; Waliszewski, Nicole; Pokras, Mark; Causey, Robert; Seger, Rita; March, Philip; Tidwell, Amy; Pfannl, Rolf; Seyfried, Thomas; Kolodny, Edwin H; Alroy, Joseph

    2014-04-01

    G(M1)-gangliosidosis is a rare progressive neurodegenerative disorder due to an autosomal recessively inherited deficiency of lysosomal β-galactosidase. We have identified seven American black bears (Ursus americanus) found in the Northeast United States suffering from G(M1)-gangliosidosis. This report describes the clinical features, brain MRI, and morphologic, biochemical and molecular genetic findings in the affected bears. Brain lipids were compared with those in the brain of a G(M1)-mouse. The bears presented at ages 10-14 months in poor clinical condition, lethargic, tremulous and ataxic. They continued to decline and were humanely euthanized. The T(2)-weighted MR images of the brain of one bear disclosed white matter hyperintensity. Morphological studies of the brain from five of the bears revealed enlarged neurons with foamy cytoplasm containing granules. Axonal spheroids were present in white matter. Electron microscopic examination revealed lamellated membrane structures within neurons. Cytoplasmic vacuoles were found in the liver, kidneys and chondrocytes and foamy macrophages within the lungs. Acid β-galactosidase activity in cultured skin fibroblasts was only 1-2% of control values. In the brain, ganglioside-bound sialic acid was increased more than 2-fold with G(M1)-ganglioside predominating. G(A1) content was also increased whereas cerebrosides and sulfatides were markedly decreased. The distribution of gangliosides was similar to that in the G(M1)-mouse brain, but the loss of myelin lipids was greater in the brain of the affected bear than in the brain of the G(M1) mouse. Isolated full-length cDNA of the black bear GLB1 gene revealed 86% homology to its human counterpart in nucleotide sequence and 82% in amino acid sequence. GLB1 cDNA from liver tissue of an affected bear contained a homozygous recessive T(1042) to C transition inducing a Tyr348 to His mutation (Y348H) within a highly conserved region of the GLB1 gene. The coincidence of several

  15. Genetic testing and its implications: human genetics researchers grapple with ethical issues.

    Science.gov (United States)

    Rabino, Isaac

    2003-01-01

    To better understand ethical issues involved in the field of human genetics and promote debate within the scientific community, the author surveyed scientists who engage in human genetics research about the pros, cons, and ethical implications of genetic testing. This study contributes systematic data on attitudes of scientific experts. The survey finds respondents are highly supportive of voluntary testing and the right to know one's genetic heritage. The majority consider in utero testing and consequent pregnancy termination acceptable for cases involving likelihood of serious disease but disapprove for genetic reasons they consider arbitrary, leaving a gray area of distinguishing between treatment of disorders and enhancement still to be resolved. While safeguarding patient confidentiality versus protecting at-risk third parties (kin, reproductive partners) presents a dilemma, preserving privacy from misuse by institutional third parties (employers, insurers) garners strong consensus for legislation against discrimination. Finally, a call is made for greater genetic literacy.

  16. Allergic contact dermatitis caused by mushrooms. A case report and literature review.

    Science.gov (United States)

    Bruhn, J N; Soderberg, M D

    1991-09-01

    The first author is allergic to skin contact with mushrooms of Suillus americanus, S. granulatus, S. grevillei, S. luteus, or S. neoalbidipes. Symptoms develop between one and two days after contact and last for approximately a week, disappearing completely without treatment. Symptoms consist of reddening, swelling, and itching, at the sites of contact with pileus cuticle mucilage of all five species. Pore layer tissues (tested for S. americanus and S. luteus) also produced strong reactions, as did pileus trama (tested for S. luteus). Spores from spore prints (tested for S. americanus and S. luteus) produced no reaction. The reaction can be avoided by wearing gloves when handling allergic species and by washing hands promptly after working with these species. Similar cases, reported from North America, Europe, and Russia, involve Agaricus, Boletus, Lactarius, Paxillus, Ramaria, and Suillus species. Several cases involve allergy to multiple species or genera. Symptom severity varies, presumably with intensity of exposure. In one case, symptoms were renewed following ingestion. Most cases demonstrate delayed allergic contact sensitivity.

  17. Nursery use of shallow habitats by epibenthic fishes in Maine nearshore waters

    Science.gov (United States)

    Lazzari, M. A.; Sherman, S.; Kanwit, J. K.

    2003-01-01

    Species richness and abundance of epibenthic fishes were quantified with daytime beam trawl tows in shallow water habitats during April-November 2000 of three mid-coast Maine estuaries: Casco Bay, Muscongus Bay and the Weskeag River. Five shallow (Gasterosteus aculeatus, Apeltes quadracus, Pungitius pungitius, Myoxocephalus aenaeus, and Cylcopterus lumpus. The fish community of mid-coast estuaries was dominated by young-of-the-year (YOY) and juvenile fishes and all of the habitat types function as nursery areas. Twelve species (38%) of commercial and recreational importance were collected in the three estuaries, but the percentage was higher in Casco Bay (44%) and the Weskeag River (46%). These species included Anguilla rostrata, Clupea harengus, Gadus morhua, Microgadus tomcod, Pollachius virens, Urophycis chuss, Urophycis regia, Urophycis tenuis, Osmerus mordax, Macrozoarces americanus, Tautogolabrus adspersus, and Pleuronectes americanus. Four species, G. morhua, M. tomcod, P. virens, and U. tenuis were more common in spring than summer or autumn. P. americanus was most abundant in summer followed by spring and autumn. This study documents the importance of shallow estuarine areas in Maine as nurseries for these species.

  18. Amphibian embryo and parental defenses and a larval predator reduce egg mortality from water mold.

    Science.gov (United States)

    Gomez-Mestre, Ivan; Touchon, Justin C; Warkentin, Karen M

    2006-10-01

    Water molds attack aquatic eggs worldwide and have been associated with major mortality events in some cases, but typically only in association with additional stressors. We combined field observations and laboratory experiments to study egg stage defenses against pathogenic water mold in three temperate amphibians. Spotted salamanders (Ambystoma maculatum) wrap their eggs in a protective jelly layer that prevents mold from reaching the embryos. Wood frog (Rana sylvatica) egg masses have less jelly but are laid while ponds are still cold and mold growth is slow. American toad (Bufo americanus) eggs experience the highest infection levels. They are surrounded by thin jelly and are laid when ponds have warmed and mold grows rapidly. Eggs of all three species hatched early when infected, yielding smaller and less developed hatchlings. This response was strongest in B. americanus. Precocious hatching increased vulnerability of wood frog hatchlings to invertebrate predators. Finally, despite being potential toad hatchling predators, R. sylvatica tadpoles can have a positive effect on B. americanus eggs. They eat water mold off infected toad clutches, increasing their hatching success.

  19. Effects of ultraviolet radiation on life-history stages of anurans from Ontario, Canada

    Energy Technology Data Exchange (ETDEWEB)

    Grant, K.P.; Licht, L.E. [York Univ., Toronto, ON (Canada)

    1995-12-01

    The effects of ultraviolet radiation on life-history stages of anurans Bufo americanus, Hyla versicolor, Rana clamitans, and Rana sylvatica were tested. Eggs and larvae were not affected by uv-a at double normal outdoor levels. R. sylvatica embryos exposed to 30 minutes or more of artificially high intensity uv-b levels died. There was no effect on hatching levels for artificially high exposures of uv-b radiation for less than 15 minutes. A greater proportion of abnormal embryos occurred after exposure to 10 or 15 minutes of artificially high intensity treatment at 12 degree Celsius than at 20 degrees Celsius. Only larval R. clamitans showed some level of tolerance of artificially high uv-b levels. Ecologically relevant doses of uv-b had no effect on the developmental period of B. americanus, H. versicolor, and R. sylvatica. Older B. americanus exposed for the same length of time had higher survivorship than younger animals. The role of uv radiation in the presumed decline of amphibian populations was also discussed. 7 tabs., 43 refs.

  20. Quo Vadis, Medical Genetics?

    Science.gov (United States)

    Czeizel, Andrew E.

    The beginning of human genetics and its medical part: medical genetics was promising in the early decades of this century. Many genetic diseases and defects with Mendelian origin were identified and it helped families with significant genetic burden to limit their child number. Unfortunately this good start was shadowed by two tragic events. On the one hand, in the 1930s and early 1940s the German fascism brought about the dominance of an unscientific eugenics to mask vile political crimes. People with genetic diseases-defects were forced to sterilisation and several of them were killed. On the other hand, in the 1950s lysenkoism inhibitied the evolution of genetics in the Soviet Union and their satelite countries. Lysenko's doctrine declared genetics as a product of imperialism and a guilty science, therefore leading geneticists were ousted form their posts and some of them were executed or put in prison. Past decades genetics has resulted fantastic new results and achieved a leading position within the natural sciences. To my mind, however, the expected wider use of new eugenics indicates a new tragedy and this Cassandra's prediction is the topic of this presentation.

  1. A Tri-Part Model for Genetics Literacy: Exploring Undergraduate Student Reasoning about Authentic Genetics Dilemmas

    Science.gov (United States)

    Shea, Nicole A.; Duncan, Ravit Golan; Stephenson, Celeste

    2015-01-01

    Genetics literacy is becoming increasingly important as advancements in our application of genetic technologies such as stem cell research, cloning, and genetic screening become more prevalent. Very few studies examine how genetics literacy is applied when reasoning about authentic genetic dilemmas. However, there is evidence that situational…

  2. From observational to dynamic genetics

    Directory of Open Access Journals (Sweden)

    Claire M. A. Haworth

    2014-01-01

    Full Text Available Twin and family studies have shown that most traits are at least moderately heritable. But what are the implications of finding genetic influence for the design of intervention and prevention programs? For complex traits, heritability does not mean immutability, and research has shown that genetic influences can change with age, context and in response to behavioural and drug interventions. The most significant implications for intervention will come when we move from observational genetics to investigating dynamic genetics, including genetically sensitive interventions. Future interventions should be designed to overcome genetic risk and draw upon genetic strengths by changing the environment.

  3. What Is Genetic Ancestry Testing?

    Science.gov (United States)

    ... consumer genetic testing? What kinds of direct-to-consumer genetic tests are available? What is genetic ancestry testing? What are the benefits and risks of direct-to-consumer genetic testing? ...

  4. Genetics and Rheumatic Disease

    Science.gov (United States)

    ... Well with Rheumatic Disease Genetics and Rheumatic Disease Genetics and Rheumatic Disease Fast Facts Studying twins has ... 70%, and for non-identical pairs, even lower. Genetics and ankylosing spondylitis Each rheumatic disease has its ...

  5. A new definition of Genetic Counseling: National Society of Genetic Counselors' Task Force report.

    Science.gov (United States)

    Resta, Robert; Biesecker, Barbara Bowles; Bennett, Robin L; Blum, Sandra; Hahn, Susan Estabrooks; Strecker, Michelle N; Williams, Janet L

    2006-04-01

    The Genetic Counseling Definition Task Force of the National Society of Genetic Counselors (NSGC) developed the following definition of genetic counseling that was approved by the NSGC Board of Directors: Genetic counseling is the process of helping people understand and adapt to the medical, psychological and familial implications of genetic contributions to disease. This process integrates the following: Interpretation of family and medical histories to assess the chance of disease occurrence or recurrence. Education about inheritance, testing, management, prevention, resources and research. Counseling to promote informed choices and adaptation to the risk or condition. The definition was approved after a peer review process with input from the NSGC membership, genetic professional organizations, the NSGC legal counsel, and leaders of several national genetic advocacy groups.

  6. Genetic heterogeneity of retinitis pigmentosa

    OpenAIRE

    Hartono, Hartono

    2015-01-01

    Genetic heterogeneity is a phenomenon in which a genetic disease can be transmitted by several modes of inheritance. The understanding of genetic heterogeneity is important in giving genetic counselling.The presence of genetic heterogeneity can be explained by the existence of:1.different mutant alleles at a single locus, and2.mutant alleles at different loci affecting the same enzyme or protein, or affecting different enzymes or proteins.To have an overall understanding of genetic heterogene...

  7. Comparative Metagenomics of Cellulose- and Poplar Hydrolysate-Degrading Microcosms from Gut Microflora of the Canadian Beaver (Castor canadensis and North American Moose (Alces americanus after Long-Term Enrichment

    Directory of Open Access Journals (Sweden)

    Mabel T. Wong

    2017-12-01

    Full Text Available To identify carbohydrate-active enzymes (CAZymes that might be particularly relevant for wood fiber processing, we performed a comparative metagenomic analysis of digestive systems from Canadian beaver (Castor canadensis and North American moose (Alces americanus following 3 years of enrichment on either microcrystalline cellulose or poplar hydrolysate. In total, 9,386 genes encoding CAZymes and carbohydrate-binding modules (CBMs were identified, with up to half predicted to originate from Firmicutes, Bacteroidetes, Chloroflexi, and Proteobacteria phyla, and up to 17% from unknown phyla. Both PCA and hierarchical cluster analysis distinguished the annotated glycoside hydrolase (GH distributions identified herein, from those previously reported for grass-feeding mammals and herbivorous foragers. The CAZyme profile of moose rumen enrichments also differed from a recently reported moose rumen metagenome, most notably by the absence of GH13-appended dockerins. Consistent with substrate-driven convergence, CAZyme profiles from both poplar hydrolysate-fed cultures differed from cellulose-fed cultures, most notably by increased numbers of unique sequences belonging to families GH3, GH5, GH43, GH53, and CE1. Moreover, pairwise comparisons of moose rumen enrichments further revealed higher counts of GH127 and CE15 families in cultures fed with poplar hydrolysate. To expand our scope to lesser known carbohydrate-active proteins, we identified and compared multi-domain proteins comprising both a CBM and domain of unknown function (DUF as well as proteins with unknown function within the 416 predicted polysaccharide utilization loci (PULs. Interestingly, DUF362, identified in iron–sulfur proteins, was consistently appended to CBM9; on the other hand, proteins with unknown function from PULs shared little identity unless from identical PULs. Overall, this study sheds new light on the lignocellulose degrading capabilities of microbes originating from

  8. "Genetic exceptionalism" in medicine: clarifying the differences between genetic and nongenetic tests.

    Science.gov (United States)

    Green, Michael J; Botkin, Jeffrey R

    2003-04-01

    Predictive genetic tests are now available for assessing susceptibility to a variety of conditions, including breast and colon cancer, hemochromatosis, and Alzheimer and Huntington disease. Much controversy surrounds the application of these tests, stemming from their similarities to and differences from other tests commonly used in asymptomatic persons. Some have argued that genetic tests are unique and therefore justify special consideration with regard to informed consent and privacy. This paper examines the arguments for such "genetic exceptionalism" and concludes that no clear, significant distinctions between genetic and nongenetic tests justify a different approach to testing by clinicians. Nevertheless, with many genetic tests, the results may cause stigmatization, family discord, and psychological distress. Regardless of whether a test is genetic, when this combination of characteristics is present and when health care providers are not specifically trained to interpret results, testing should be performed with particular caution and the highest standards of informed consent and privacy protection should be applied.

  9. Analysis of genetic polymorphism and genetic distance among four ...

    African Journals Online (AJOL)

    use

    2011-11-21

    Nov 21, 2011 ... The genomes of 4 sheep populations {Yuanqu white Tan sheep (YWT), Baozhongchang white Tan sheep. (BWT), black Tan sheep (BT) and small-tailed Han sheep (Han)} were screened using 10 microsatellite. DNA markers to estimate the genetic diversities and genetic distances among these ...

  10. Genetics of aggression.

    Science.gov (United States)

    Anholt, Robert R H; Mackay, Trudy F C

    2012-01-01

    Aggression mediates competition for food, mating partners, and habitats and, among social animals, establishes stable dominance hierarchies. In humans, abnormal aggression is a hallmark of neuropsychiatric disorders and can be elicited by environmental factors acting on an underlying genetic susceptibility. Identifying the genetic architecture that predisposes to aggressive behavior in people is challenging because of difficulties in quantifying the phenotype, genetic heterogeneity, and uncontrolled environmental conditions. Studies on mice have identified single-gene mutations that result in hyperaggression, contingent on genetic background. These studies can be complemented by systems genetics approaches in Drosophila melanogaster, in which mutational analyses together with genome-wide transcript analyses, artificial selection studies, and genome-wide analysis of epistasis have revealed that a large segment of the genome contributes to the manifestation of aggressive behavior with widespread epistatic interactions. Comparative genomic analyses based on the principle of evolutionary conservation are needed to enable a complete dissection of the neurogenetic underpinnings of this universal fitness trait.

  11. Genetic programming in microorganisms

    Energy Technology Data Exchange (ETDEWEB)

    Hopwood, D A

    1981-11-01

    Formerly, when microbiologists had only existing organisms at their disposal whose characteristics could only be changed randomly by genetic experiments, they used to dream of programmed genetic changes. This dream has come true with modern genetic engineering.

  12. Genetic Diseases and Genetic Determinism Models in French Secondary School Biology Textbooks

    Science.gov (United States)

    Castera, Jeremy; Bruguiere, Catherine; Clement, Pierre

    2008-01-01

    The presentation of genetic diseases in French secondary school biology textbooks is analysed to determine the major conceptions taught in the field of human genetics. References to genetic diseases, and the processes by which they are explained (monogeny, polygeny, chromosomal anomaly and environmental influence) are studied in recent French…

  13. Review: domestic animal forensic genetics - biological evidence, genetic markers, analytical approaches and challenges.

    Science.gov (United States)

    Kanthaswamy, S

    2015-10-01

    This review highlights the importance of domestic animal genetic evidence sources, genetic testing, markers and analytical approaches as well as the challenges this field is facing in view of the de facto 'gold standard' human DNA identification. Because of the genetic similarity between humans and domestic animals, genetic analysis of domestic animal hair, saliva, urine, blood and other biological material has generated vital investigative leads that have been admitted into a variety of court proceedings, including criminal and civil litigation. Information on validated short tandem repeat, single nucleotide polymorphism and mitochondrial DNA markers and public access to genetic databases for forensic DNA analysis is becoming readily available. Although the fundamental aspects of animal forensic genetic testing may be reliable and acceptable, animal forensic testing still lacks the standardized testing protocols that human genetic profiling requires, probably because of the absence of monetary support from government agencies and the difficulty in promoting cooperation among competing laboratories. Moreover, there is a lack in consensus about how to best present the results and expert opinion to comply with court standards and bear judicial scrutiny. This has been the single most persistent challenge ever since the earliest use of domestic animal forensic genetic testing in a criminal case in the mid-1990s. Crime laboratory accreditation ensures that genetic test results have the courts' confidence. Because accreditation requires significant commitments of effort, time and resources, the vast majority of animal forensic genetic laboratories are not accredited nor are their analysts certified forensic examiners. The relevance of domestic animal forensic genetics in the criminal justice system is undeniable. However, further improvements are needed in a wide range of supporting resources, including standardized quality assurance and control protocols for sample

  14. Estimating the actual subject-specific genetic correlations in behavior genetics.

    Science.gov (United States)

    Molenaar, Peter C M

    2012-10-01

    Generalization of the standard behavior longitudinal genetic factor model for the analysis of interindividual phenotypic variation to a genetic state space model for the analysis of intraindividual variation enables the possibility to estimate subject-specific heritabilities.

  15. Genetic Pathways to Insomnia

    OpenAIRE

    Mackenzie J. Lind; Philip R. Gehrman

    2016-01-01

    This review summarizes current research on the genetics of insomnia, as genetic contributions are thought to be important for insomnia etiology. We begin by providing an overview of genetic methods (both quantitative and measured gene), followed by a discussion of the insomnia genetics literature with regard to each of the following common methodologies: twin and family studies, candidate gene studies, and genome-wide association studies (GWAS). Next, we summarize the most recent gene identif...

  16. All about Genetics (For Parents)

    Science.gov (United States)

    ... Videos for Educators Search English Español All About Genetics KidsHealth / For Parents / All About Genetics What's in ... the way they pick up special laboratory dyes. Genetic Problems Errors in the genetic code or "gene ...

  17. Prenatal Genetic Counseling (For Parents)

    Science.gov (United States)

    ... Videos for Educators Search English Español Prenatal Genetic Counseling KidsHealth / For Parents / Prenatal Genetic Counseling What's in ... can they help your family? What Is Genetic Counseling? Genetic counseling is the process of: evaluating family ...

  18. Can genetics help psychometrics? Improving dimensionality assessment through genetic factor modeling.

    Science.gov (United States)

    Franić, Sanja; Dolan, Conor V; Borsboom, Denny; Hudziak, James J; van Beijsterveldt, Catherina E M; Boomsma, Dorret I

    2013-09-01

    In the present article, we discuss the role that quantitative genetic methodology may play in assessing and understanding the dimensionality of psychological (psychometric) instruments. Specifically, we study the relationship between the observed covariance structures, on the one hand, and the underlying genetic and environmental influences giving rise to such structures, on the other. We note that this relationship may be such that it hampers obtaining a clear estimate of dimensionality using standard tools for dimensionality assessment alone. One situation in which dimensionality assessment may be impeded is that in which genetic and environmental influences, of which the observed covariance structure is a function, differ from each other in structure and dimensionality. We demonstrate that in such situations settling dimensionality issues may be problematic, and propose using quantitative genetic modeling to uncover the (possibly different) dimensionalities of the underlying genetic and environmental structures. We illustrate using simulations and an empirical example on childhood internalizing problems.

  19. Genetics

    International Nuclear Information System (INIS)

    Hubitschek, H.E.

    1975-01-01

    Progress is reported on the following research projects: genetic effects of high LET radiations; genetic regulation, alteration, and repair; chromosome replication and the division cycle of Escherichia coli; effects of radioisotope decay in the DNA of microorganisms; initiation and termination of DNA replication in Bacillus subtilis; mutagenesis in mouse myeloma cells; lethal and mutagenic effects of near-uv radiation; effect of 8-methoxypsoralen on photodynamic lethality and mutagenicity in Escherichia coli; DNA repair of the lethal effects of far-uv; and near uv irradiation of bacterial cells

  20. [Genetic information and future medicine].

    Science.gov (United States)

    Sakurai, Akihiro

    2012-11-01

    Rapid technological advances in genetic analysis have revealed the genetic background of various diseases. Elucidation of the genes responsible for a disease enables better clinical management of the disease and helps to develop targeted drugs. Also, early diagnosis and management of at-risk family members can be made by identification of a genetic disease in the proband. On the other hand, genetic issues often cause psychological distress to the family. To perform genetic testing appropriately and to protect patients and family members from any harm, guidelines for genetic testing were released from the alliance of Japanese genetics-related academic societies in 2003. As genetic testing is becoming incorporated into clinical practice more broadly, the guideline was revised and released by the Japanese Society of Medical Sciences in 2011. All medical professionals in Japan are expected to follow this guideline.

  1. Statistics for Learning Genetics

    Science.gov (United States)

    Charles, Abigail Sheena

    This study investigated the knowledge and skills that biology students may need to help them understand statistics/mathematics as it applies to genetics. The data are based on analyses of current representative genetics texts, practicing genetics professors' perspectives, and more directly, students' perceptions of, and performance in, doing statistically-based genetics problems. This issue is at the emerging edge of modern college-level genetics instruction, and this study attempts to identify key theoretical components for creating a specialized biological statistics curriculum. The goal of this curriculum will be to prepare biology students with the skills for assimilating quantitatively-based genetic processes, increasingly at the forefront of modern genetics. To fulfill this, two college level classes at two universities were surveyed. One university was located in the northeastern US and the other in the West Indies. There was a sample size of 42 students and a supplementary interview was administered to a select 9 students. Interviews were also administered to professors in the field in order to gain insight into the teaching of statistics in genetics. Key findings indicated that students had very little to no background in statistics (55%). Although students did perform well on exams with 60% of the population receiving an A or B grade, 77% of them did not offer good explanations on a probability question associated with the normal distribution provided in the survey. The scope and presentation of the applicable statistics/mathematics in some of the most used textbooks in genetics teaching, as well as genetics syllabi used by instructors do not help the issue. It was found that the text books, often times, either did not give effective explanations for students, or completely left out certain topics. The omission of certain statistical/mathematical oriented topics was seen to be also true with the genetics syllabi reviewed for this study. Nonetheless

  2. Genetic and non-genetic factors affecting morphometry of Sirohi goats

    Science.gov (United States)

    Dudhe, S. D.; Yadav, S. B. S.; Nagda, R. K.; Pannu, Urmila; Gahlot, G. C.

    2015-01-01

    Aim: The aim was to estimate genetic and non-genetic factors affecting morphometric traits of Sirohi goats under field condition. Materials and Methods: The detailed information of all animals on body measurements at birth, 3, 6, 9, and 12 months of age was collected from farmer’s flock under field condition born during 2007-2013 to analyze the effect of genetic and non-genetic factors. The least squares maximum likelihood program was used to estimate genetic and non-genetic parameters affecting morphometric traits. Results and Discussion: Effect of sire, cluster, year of birth, and sex was found to be highly significant (p<0.01) on all three morphometric traits, parity was highly significant (p<0.01) for body height (BH) and body girth (BG) at birth. The h2 estimates for morphometric traits ranged among 0.528±0.163 to 0.709±0.144 for BH, 0.408±0.159 to 0.605±0.192 for body length (BL), and 0.503±0.197 to 0.695±0.161 for BG. Conclusion: The effect of sire was highly significant (p<0.01) and also h² estimate of all morphometric traits were medium to high; therefore, it could be concluded on the basis of present findings that animals with higher body measurements at initial phases of growth will perform better with respect to even body weight traits at later stages of growth. PMID:27047043

  3. Melanoma genetics

    DEFF Research Database (Denmark)

    Read, Jazlyn; Wadt, Karin A W; Hayward, Nicholas K

    2015-01-01

    Approximately 10% of melanoma cases report a relative affected with melanoma, and a positive family history is associated with an increased risk of developing melanoma. Although the majority of genetic alterations associated with melanoma development are somatic, the underlying presence of herita......Approximately 10% of melanoma cases report a relative affected with melanoma, and a positive family history is associated with an increased risk of developing melanoma. Although the majority of genetic alterations associated with melanoma development are somatic, the underlying presence...... in a combined total of approximately 50% of familial melanoma cases, the underlying genetic basis is unexplained for the remainder of high-density melanoma families. Aside from the possibility of extremely rare mutations in a few additional high penetrance genes yet to be discovered, this suggests a likely...... polygenic component to susceptibility, and a unique level of personal melanoma risk influenced by multiple low-risk alleles and genetic modifiers. In addition to conferring a risk of cutaneous melanoma, some 'melanoma' predisposition genes have been linked to other cancers, with cancer clustering observed...

  4. Local Genetic Correlation Gives Insights into the Shared Genetic Architecture of Complex Traits.

    Science.gov (United States)

    Shi, Huwenbo; Mancuso, Nicholas; Spendlove, Sarah; Pasaniuc, Bogdan

    2017-11-02

    Although genetic correlations between complex traits provide valuable insights into epidemiological and etiological studies, a precise quantification of which genomic regions disproportionately contribute to the genome-wide correlation is currently lacking. Here, we introduce ρ-HESS, a technique to quantify the correlation between pairs of traits due to genetic variation at a small region in the genome. Our approach requires GWAS summary data only and makes no distributional assumption on the causal variant effect sizes while accounting for linkage disequilibrium (LD) and overlapping GWAS samples. We analyzed large-scale GWAS summary data across 36 quantitative traits, and identified 25 genomic regions that contribute significantly to the genetic correlation among these traits. Notably, we find 6 genomic regions that contribute to the genetic correlation of 10 pairs of traits that show negligible genome-wide correlation, further showcasing the power of local genetic correlation analyses. Finally, we report the distribution of local genetic correlations across the genome for 55 pairs of traits that show putative causal relationships. Copyright © 2017 American Society of Human Genetics. Published by Elsevier Inc. All rights reserved.

  5. Familial clustering and genetic risk for dementia in a genetically isolated Dutch population.

    NARCIS (Netherlands)

    K. Sleegers (Kristel); F. Forey; J. Theuns (Jessie); Y.S. Aulchenko (Yurii); S. Rademakers (Suzanne); M. Cruts (Marc); W.A. van Gool (Willem); P. Heutink (Peter); B.A. Oostra (Ben); J.C. van Swieten (John); C.M. van Duijn (Cornelia); C. van Broeckhoven (Christine)

    2004-01-01

    textabstractDespite advances in elucidating the genetic epidemiology of Alzheimer's disease and frontotemporal dementia, the aetiology for most patients with dementia remains unclear. We examined the genetic epidemiology of dementia in a recent genetically isolated Dutch population founded around

  6. Genetic screening and democracy: lessons from debating genetic screening criteria in the Netherlands

    NARCIS (Netherlands)

    van El, C.G.; Pieters, T.; Cornel, M.C.

    2012-01-01

    Recent decades have witnessed increasing possibilities for genetic testing and screening. In clinical genetics, the doctor's office defined a secluded space for discussion of sensitive reproductive options in cases of elevated risk for genetic disorders in individuals or their offspring. When

  7. Familial clustering and genetic risk for dementia in a genetically isolated Dutch population

    NARCIS (Netherlands)

    Sleegers, K.; Roks, G.; Theuns, J.; Aulchenko, Y. S.; Rademakers, R.; Cruts, M.; van Gool, W. A.; van Broeckhoven, C.; Heutink, P.; Oostra, B. A.; van Swieten, J. C.; van Duijn, C. M.

    2004-01-01

    Despite advances in elucidating the genetic epidemiology of Alzheimer's disease and frontotemporal dementia, the aetiology for most patients with dementia remains unclear. We examined the genetic epidemiology of dementia in a recent genetically isolated Dutch population founded around 1750. The

  8. Estimates of genetic parameters and genetic gains for growth traits ...

    African Journals Online (AJOL)

    Estimates of genetic parameters and genetic gains for growth traits of two Eucalyptus ... In South Africa, Eucalyptus urophylla is an important species due to its ... as hybrid parents to cross with E. grandis was 59.8% over the population mean.

  9. Genetics researchers’ and iRB professionals’ attitudes toward genetic research review: a comparative analysis

    Science.gov (United States)

    Edwards, Karen L.; Lemke, Amy A.; Trinidad, Susan B.; Lewis, Susan M.; Starks, Helene; Snapinn, Katherine W.; Griffin, Mary Quinn; Wiesner, Georgia L.; Burke, Wylie

    2012-01-01

    Purpose Genetic research involving human participants can pose challenging questions related to ethical and regulatory standards for research oversight. However, few empirical studies describe how genetic researchers and institutional review board (IRB) professionals conceptualize ethical issues in genetic research or where common ground might exist. Methods Parallel online surveys collected information from human genetic researchers (n = 351) and IRB professionals (n = 208) regarding their views about human participant oversight for genetic protocols. Results A range of opinions were observed within groups on most issues. In both groups, a minority thought it likely that people would be harmed by participation in genetic research or identified from coded genetic data. A majority of both groups agreed that reconsent should be required for four of the six scenarios presented. Statistically significant differences were observed between groups on some issues, with more genetic researcher respondents trusting the confidentiality of coded data, fewer expecting harms from reidentification, and fewer considering reconsent necessary in certain scenarios. Conclusions The range of views observed within and between IRB and genetic researcher groups highlights the complexity and unsettled nature of many ethical issues in genome research. Our findings also identify areas where researcher and IRB views diverge and areas of common ground. PMID:22241102

  10. Genetically engineered foods

    Science.gov (United States)

    Bioengineered foods; GMOs; Genetically modified foods ... helps speed up the process of creating new foods with desired traits. The possible benefits of genetic engineering include: More nutritious food Tastier food Disease- and ...

  11. [Public health, genetics and ethics].

    Science.gov (United States)

    Kottow, Miguel H

    2002-10-01

    Genetics research has shown enormous developments in recent decades, although as yet with only limited clinical application. Bioethical analysis has been unable to deal with the vast problems of genetics because emphasis has been put on the principlism applied to both clinical and research bioethics. Genetics nevertheless poses its most complex moral dilemmas at the public level, where a social brand of ethics ought to supersede the essentially interpersonal perspective of principlism. A more social understanding of ethics in genetics is required to unravel issues such as research and clinical explorations, ownership and patents, genetic manipulation, and allocation of resources. All these issues require reflection based on the requirements of citizenry, consideration of common assets, and definition of public policies in regulating genetic endeavors and protecting the society as a whole Bioethics has privileged the approach to individual ethical issues derived from genetic intervention, thereby neglecting the more salient aspects of genetics and social ethics.

  12. Producing genetic knowledge and citizenship through the Internet: mothers, pediatric genetics, and cybermedicine.

    Science.gov (United States)

    Schaffer, Rebecca; Kuczynski, Kristine; Skinner, Debra

    2008-01-01

    This article analyses data from a longitudinal, ethnographic study conducted in the United States to examine how 100 mothers of children with genetic disorders used the Internet to interpret, produce, and circulate genetic knowledge pertaining to their child's condition. We describe how they came to value their own experiential knowledge, helped shift the boundaries of what counts as authoritative knowledge, and assumed the role of genetic citizen, fighting for specific rights while shouldering and contesting concomitant duties and obligations. This exploration of e-health use contributes to our understanding of the social practices and power relations that cut across online and off-line worlds to co-produce genetic knowledge and genetic citizenship in multiple contexts.

  13. PCR in forensic genetics

    DEFF Research Database (Denmark)

    Morling, Niels

    2009-01-01

    Since the introduction in the mid-1980s of analyses of minisatellites for DNA analyses, a revolution has taken place in forensic genetics. The subsequent invention of the PCR made it possible to develop forensic genetics tools that allow both very informative routine investigations and still more...... and more advanced, special investigations in cases concerning crime, paternity, relationship, disaster victim identification etc. The present review gives an update on the use of DNA investigations in forensic genetics.......Since the introduction in the mid-1980s of analyses of minisatellites for DNA analyses, a revolution has taken place in forensic genetics. The subsequent invention of the PCR made it possible to develop forensic genetics tools that allow both very informative routine investigations and still more...

  14. Imaging and cognitive genetics: the Norwegian Cognitive NeuroGenetics sample.

    Science.gov (United States)

    Espeseth, Thomas; Christoforou, Andrea; Lundervold, Astri J; Steen, Vidar M; Le Hellard, Stephanie; Reinvang, Ivar

    2012-06-01

    Data collection for the Norwegian Cognitive NeuroGenetics sample (NCNG) was initiated in 2003 with a research grant (to Ivar Reinvang) to study cognitive aging, brain function, and genetic risk factors. The original focus was on the effects of aging (from middle age and up) and candidate genes (e.g., APOE, CHRNA4) in cross-sectional and longitudinal designs, with the cognitive and MRI-based data primarily being used for this purpose. However, as the main topic of the project broadened from cognitive aging to imaging and cognitive genetics more generally, the sample size, age range of the participants, and scope of available phenotypes and genotypes, have developed beyond the initial project. In 2009, a genome-wide association (GWA) study was undertaken, and the NCNG proper was established to study the genetics of cognitive and brain function more comprehensively. The NCNG is now controlled by the NCNG Study Group, which consists of the present authors. Prominent features of the NCNG are the adult life-span coverage of healthy participants with high-dimensional imaging, and cognitive data from a genetically homogenous sample. Another unique property is the large-scale (sample size 300-700) use of experimental cognitive tasks focusing on attention and working memory. The NCNG data is now used in numerous ongoing GWA-based studies and has contributed to several international consortia on imaging and cognitive genetics. The objective of the following presentation is to give other researchers the information necessary to evaluate possible contributions from the NCNG to various multi-sample data analyses.

  15. Short communication: Genetic lag represents commercial herd genetic merit more accurately than the 4-path selection model.

    Science.gov (United States)

    Dechow, C D; Rogers, G W

    2018-05-01

    Expectation of genetic merit in commercial dairy herds is routinely estimated using a 4-path genetic selection model that was derived for a closed population, but commercial herds using artificial insemination sires are not closed. The 4-path model also predicts a higher rate of genetic progress in elite herds that provide artificial insemination sires than in commercial herds that use such sires, which counters other theoretical assumptions and observations of realized genetic responses. The aim of this work is to clarify whether genetic merit in commercial herds is more accurately reflected under the assumptions of the 4-path genetic response formula or by a genetic lag formula. We demonstrate by tracing the transmission of genetic merit from parents to offspring that the rate of genetic progress in commercial dairy farms is expected to be the same as that in the genetic nucleus. The lag in genetic merit between the nucleus and commercial farms is a function of sire and dam generation interval, the rate of genetic progress in elite artificial insemination herds, and genetic merit of sires and dams. To predict how strategies such as the use of young versus daughter-proven sires, culling heifers following genomic testing, or selective use of sexed semen will alter genetic merit in commercial herds, genetic merit expectations for commercial herds should be modeled using genetic lag expectations. Copyright © 2018 American Dairy Science Association. Published by Elsevier Inc. All rights reserved.

  16. Genetic GIScience

    DEFF Research Database (Denmark)

    Jacquez, Geoffrey; Sabel, Clive E; Shi, Chen

    2015-01-01

    The exposome, defined as the totality of an individual's exposures over the life course, is a seminal concept in the environmental health sciences. Although inherently geographic, the exposome as yet is unfamiliar to many geographers. This article proposes a place-based synthesis, genetic...... geographic information science (genetic GIScience), that is founded on the exposome, genome+, and behavome. It provides an improved understanding of human health in relation to biology (the genome+), environmental exposures (the exposome), and their social, societal, and behavioral determinants (the behavome......). Genetic GIScience poses three key needs: first, a mathematical foundation for emergent theory; second, process-based models that bridge biological and geographic scales; third, biologically plausible estimates of space?time disease lags. Compartmental models are a possible solution; this article develops...

  17. An analysis of the genetic diversity and genetic structure of ...

    African Journals Online (AJOL)

    Scientific approaches to conservation of threatened species depend on a good understanding of the genetic information of wild and artificial population. The genetic diversity and structure analysis of 10 Eucommia ulmoides population was analyzed using inter-simple sequence repeat (ISSR) markers in this paper.

  18. An overview of posttraumatic stress disorder genetic studies by analyzing and integrating genetic data into genetic database PTSDgene

    NARCIS (Netherlands)

    Zhang, Kunlin; Qu, Susu; Chang, Suhua; Li, Gen; Cao, Chengqi; Fang, Kechi; Olff, Miranda; Wang, Li; Wang, Jing

    2017-01-01

    Posttraumatic stress disorder (PTSD) is a debilitating psychiatric syndrome with complex etiology. Studies aiming to explore genetic susceptibility and environmental triggers of PTSD have been increasing. However, the results are limited and highly heterogeneous. To understand the genetic study

  19. Unifying diseases from a genetic point of view: the example of the genetic theory of infectious diseases.

    Science.gov (United States)

    Darrason, Marie

    2013-08-01

    In the contemporary biomedical literature, every disease is considered genetic. This extension of the concept of genetic disease is usually interpreted either in a trivial or genocentrist sense, but it is never taken seriously as the expression of a genetic theory of disease. However, a group of French researchers defend the idea of a genetic theory of infectious diseases. By identifying four common genetic mechanisms (Mendelian predisposition to multiple infections, Mendelian predisposition to one infection, and major gene and polygenic predispositions), they attempt to unify infectious diseases from a genetic point of view. In this article, I analyze this explicit example of a genetic theory, which relies on mechanisms and is applied only to a specific category of diseases, what we call "a regional genetic theory." I have three aims: to prove that a genetic theory of disease can be devoid of genocentrism, to consider the possibility of a genetic theory applied to every disease, and to introduce two hypotheses about the form that such a genetic theory could take by distinguishing between a genetic theory of diseases and a genetic theory of Disease. Finally, I suggest that network medicine could be an interesting framework for a genetic theory of Disease.

  20. Genetic coding and gene expression - new Quadruplet genetic coding model

    Science.gov (United States)

    Shankar Singh, Rama

    2012-07-01

    Successful demonstration of human genome project has opened the door not only for developing personalized medicine and cure for genetic diseases, but it may also answer the complex and difficult question of the origin of life. It may lead to making 21st century, a century of Biological Sciences as well. Based on the central dogma of Biology, genetic codons in conjunction with tRNA play a key role in translating the RNA bases forming sequence of amino acids leading to a synthesized protein. This is the most critical step in synthesizing the right protein needed for personalized medicine and curing genetic diseases. So far, only triplet codons involving three bases of RNA, transcribed from DNA bases, have been used. Since this approach has several inconsistencies and limitations, even the promise of personalized medicine has not been realized. The new Quadruplet genetic coding model proposed and developed here involves all four RNA bases which in conjunction with tRNA will synthesize the right protein. The transcription and translation process used will be the same, but the Quadruplet codons will help overcome most of the inconsistencies and limitations of the triplet codes. Details of this new Quadruplet genetic coding model and its subsequent potential applications including relevance to the origin of life will be presented.

  1. Education and certification of genetic counselors.

    Science.gov (United States)

    Katsichti, L; Hadzipetros-Bardanis, M; Bartsocas, C S

    1999-01-01

    Genetic counseling is defined by the American Society of Human Genetics as a communication process which deals with the human problems associated with the occurrence, or risk of occurrence, of a genetic disorder in a family. The first graduate program (Master's degree) in genetic counseling started in 1969 at Sarah Lawrence College, NY, USA, while in 1979 the National Society of Genetic Counseling (NSGC) was established. Today, there are 29 programs in U.S.A. offering a Master's degree in Genetic Counseling, five programs in Canada, one in Mexico, one in England and one in S. Africa. Most of these graduate programs offer two year training, consisting of graduate courses, seminars, research and practical training. Emphasis is given in human physiology, biochemistry, clinical genetics, cytogenetics, molecular and biochemical genetics, population genetics and statistics, prenatal diagnosis, teratology and genetic counseling in relation to psychosocial and ethical issues. Certification for eligible candidates is available through the American Board of Medical Genetics (ABMG). Requirements for certification include a master's degree in human genetics, training at sites accredited by the ABMG, documentation of genetic counseling experience, evidence of continuing education and successful completion of a comprehensive ABMG certification examination. As professionals, genetic counselors should maintain expertise, should insure mechanisms for professional advancement and should always maintain the ability to approach their patients.

  2. Phenylketonuria Genetic Screening Simulation

    Science.gov (United States)

    Erickson, Patti

    2012-01-01

    After agreeing to host over 200 students on a daylong genetics field trip, the author needed an easy-to-prepare genetics experiment to accompany the DNA-necklace and gel-electrophoresis activities already planned. One of the student's mothers is a pediatric physician at the local hospital, and she suggested exploring genetic-disease screening…

  3. Genetic improvement of vegetables

    International Nuclear Information System (INIS)

    Jaramillo Vasquez, J.G.

    2001-01-01

    Some genetic bases of the improvement of vegetables are given. The objectives of the genetic improvement and the fundamental stages of this process are done. The sources of genetic variation are indicated and they are related the reproduction systems of the main horticultural species. It is analyzed the concept of genetic inheritance like base to determine the procedures more appropriate of improvement. The approaches are discussed, has more than enough phenotypic value, genetic action and genotypic variance; Equally the heredability concepts and value of improvement. The conventional methods of improvement are described, like they are: the introduction of species or varieties, the selection, the pure line, the pedigree method, the selection for families, the recurrent selection, the selection for unique seed, the haploids method, the selection for heterosis and the synthetic varieties

  4. Genetic Brain Disorders

    Science.gov (United States)

    A genetic brain disorder is caused by a variation or a mutation in a gene. A variation is a different form ... mutation is a change in a gene. Genetic brain disorders affect the development and function of the ...

  5. Genetics and Man

    Science.gov (United States)

    Carter, C. O.

    1973-01-01

    Can genetic evolution be controlled by man in a manner which does not violate a civilized, humane, and democratic ethos? The genetics of health and illhealth and of normal variation are discussed with respect to this question. (PEB)

  6. Genetics of osteoarthritis.

    Science.gov (United States)

    Rodriguez-Fontenla, Cristina; Gonzalez, Antonio

    2015-01-01

    Osteoarthritis (OA) is a complex disease caused by the interaction of multiple genetic and environmental factors. This review focuses on the studies that have contributed to the discovery of genetic susceptibility factors in OA. The most relevant associations discovered until now are discussed in detail: GDF-5, 7q22 locus, MCF2L, DOT1L, NCOA3 and also some important findings from the arcOGEN study. Moreover, the different approaches that can be used to minimize the specific problems of the study of OA genetics are discussed. These include the study of microsatellites, phenotype standardization and other methods such as meta-analysis of GWAS and gene-based analysis. It is expected that these new approaches contribute to finding new susceptibility genetic factors for OA. Copyright © 2014 Elsevier España, S.L.U. All rights reserved.

  7. Allozyme comparison of three Trypanosoma species (Kinetoplastida: Trypanosomatidae) of toads and frogs by starch-gel electrophoresis.

    Science.gov (United States)

    Martin, D S; Desser, S S; Hong, H

    1992-04-01

    Six metabolic enzymes, glucose-6-phosphate dehydrogenase, glucosephosphate isomerase, isocitrate dehydrogenase, malate dehydrogenase, phosphoglucomutase, and purine nucleoside phosphorylase, from clonal isolates of 3 presumptive species of Trypanosoma (T. fallisi, T. ranarum, and T. rotatorium) from 3 anuran hosts (Bufo americanus, Rana clamitans, and Rana catesbeiana) were compared using starch-gel electrophoresis. Although bands were shared among the different zymodemes of isolates of the same host genus, low genetic polymorphism of the enzyme loci was observed with few apparent shared bands between samples isolated from frogs and toads. A distance value calculated between toad and frog trypanosome isolates suggests the likelihood of long-time separation of species. Cluster analysis based on overall similarity distinguished the trypanosomes of toads and frogs as separate taxa, suggesting that host specificity and observed morphological differences are consistent with heritable allozyme differences.

  8. Genetically Engineered Cyanobacteria

    Science.gov (United States)

    Zhou, Ruanbao (Inventor); Gibbons, William (Inventor)

    2015-01-01

    The disclosed embodiments provide cyanobacteria spp. that have been genetically engineered to have increased production of carbon-based products of interest. These genetically engineered hosts efficiently convert carbon dioxide and light into carbon-based products of interest such as long chained hydrocarbons. Several constructs containing polynucleotides encoding enzymes active in the metabolic pathways of cyanobacteria are disclosed. In many instances, the cyanobacteria strains have been further genetically modified to optimize production of the carbon-based products of interest. The optimization includes both up-regulation and down-regulation of particular genes.

  9. Find the weakest link. A comparison between demographic, genetic and demo-genetic metapopulation extinction times

    Directory of Open Access Journals (Sweden)

    Robert Alexandre

    2011-09-01

    Full Text Available Abstract Background While the ultimate causes of most species extinctions are environmental, environmental constraints have various secondary consequences on evolutionary and ecological processes. The roles of demographic, genetic mechanisms and their interactions in limiting the viabilities of species or populations have stirred much debate and remain difficult to evaluate in the absence of demography-genetics conceptual and technical framework. Here, I computed projected times to metapopulation extinction using (1 a model focusing on the effects of species properties, habitat quality, quantity and temporal variability on the time to demographic extinction; (2 a genetic model focusing on the dynamics of the drift and inbreeding loads under the same species and habitat constraints; (3 a demo-genetic model accounting for demographic-genetic processes and feedbacks. Results Results indicate that a given population may have a high demographic, but low genetic viability or vice versa; and whether genetic or demographic aspects will be the most limiting to overall viability depends on the constraints faced by the species (e.g., reduction of habitat quantity or quality. As a consequence, depending on metapopulation or species characteristics, incorporating genetic considerations to demographically-based viability assessments may either moderately or severely reduce the persistence time. On the other hand, purely genetically-based estimates of species viability may either underestimate (by neglecting demo-genetic interactions or overestimate (by neglecting the demographic resilience true viability. Conclusion Unbiased assessments of the viabilities of species may only be obtained by identifying and considering the most limiting processes (i.e., demography or genetics, or, preferentially, by integrating them.

  10. Coalgebraic structure of genetic inheritance.

    Science.gov (United States)

    Tian, Jianjun; Li, Bai-Lian

    2004-09-01

    Although in the broadly defined genetic algebra, multiplication suggests a forward direction of from parents to progeny, when looking from the reverse direction, it also suggests to us a new algebraic structure-coalge- braic structure, which we call genetic coalgebras. It is not the dual coalgebraic structure and can be used in the construction of phylogenetic trees. Math- ematically, to construct phylogenetic trees means we need to solve equations x([n]) = a, or x([n]) = b. It is generally impossible to solve these equations inalgebras. However, we can solve them in coalgebras in the sense of tracing back for their ancestors. A thorough exploration of coalgebraic structure in genetics is apparently necessary. Here, we develop a theoretical framework of the coalgebraic structure of genetics. From biological viewpoint, we defined various fundamental concepts and examined their elementary properties that contain genetic significance. Mathematically, by genetic coalgebra, we mean any coalgebra that occurs in genetics. They are generally noncoassociative and without counit; and in the case of non-sex-linked inheritance, they are cocommutative. Each coalgebra with genetic realization has a baric property. We have also discussed the methods to construct new genetic coalgebras, including cocommutative duplication, the tensor product, linear combinations and the skew linear map, which allow us to describe complex genetic traits. We also put forward certain theorems that state the relationship between gametic coalgebra and gametic algebra. By Brower's theorem in topology, we prove the existence of equilibrium state for the in-evolution operator.

  11. In vitro and in vivo efficacy of Monepantel (AAD 1566 against laboratory models of human intestinal nematode infections.

    Directory of Open Access Journals (Sweden)

    Lucienne Tritten

    2011-12-01

    Full Text Available BACKGROUND: Few effective drugs are available for soil-transmitted helminthiases and drug resistance is of concern. In the present work, we tested the efficacy of the veterinary drug monepantel, a potential drug development candidate compared to standard drugs in vitro and in parasite-rodent models of relevance to human soil-transmitted helminthiases. METHODOLOGY: A motility assay was used to assess the efficacy of monepantel, albendazole, levamisole, and pyrantel pamoate in vitro on third-stage larvae (L3 and adult worms of Ancylostoma ceylanicum, Necator americanus and Trichuris muris. Ancylostoma ceylanicum- or N. americanus-infected hamsters, T. muris- or Ascaris suum-infected mice, and Strongyloides ratti-infected rats were treated with single oral doses of monepantel or with one of the reference drugs. PRINCIPAL FINDINGS: Monepantel showed excellent activity on A. ceylanicum adults (IC(50 = 1.7 µg/ml, a moderate effect on T. muris L3 (IC(50 = 78.7 µg/ml, whereas no effect was observed on A. ceylanicum L3, T. muris adults, and both stages of N. americanus. Of the standard drugs, levamisole showed the highest potency in vitro (IC(50 = 1.6 and 33.1 µg/ml on A. ceylanicum and T. muris L3, respectively. Complete elimination of worms was observed with monepantel (10 mg/kg and albendazole (2.5 mg/kg in A. ceylanicum-infected hamsters. In the N. americanus hamster model single 10 mg/kg oral doses of monepantel and albendazole resulted in worm burden reductions of 58.3% and 100%, respectively. Trichuris muris, S. ratti and A. suum were not affected by treatment with monepantel in vivo (following doses of 600 mg/kg, 32 mg/kg and 600 mg/kg, respectively. In contrast, worm burden reductions of 95.9% and 76.6% were observed following treatment of T. muris- and A. suum infected mice with levamisole (200 mg/kg and albendazole (600 mg/kg, respectively. CONCLUSIONS/SIGNIFICANCE: Monepantel reveals low or no activities against N. americanus

  12. The synthesis paradigm in genetics.

    Science.gov (United States)

    Rice, William R

    2014-02-01

    Experimental genetics with model organisms and mathematically explicit genetic theory are generally considered to be the major paradigms by which progress in genetics is achieved. Here I argue that this view is incomplete and that pivotal advances in genetics--and other fields of biology--are also made by synthesizing disparate threads of extant information rather than generating new information from experiments or formal theory. Because of the explosive expansion of information in numerous "-omics" data banks, and the fragmentation of genetics into numerous subdisciplines, the importance of the synthesis paradigm will likely expand with time.

  13. Contribution of genetics to ecological restoration.

    Science.gov (United States)

    Mijangos, Jose Luis; Pacioni, Carlo; Spencer, Peter B S; Craig, Michael D

    2015-01-01

    Ecological restoration of degraded ecosystems has emerged as a critical tool in the fight to reverse and ameliorate the current loss of biodiversity and ecosystem services. Approaches derived from different genetic disciplines are extending the theoretical and applied frameworks on which ecological restoration is based. We performed a search of scientific articles and identified 160 articles that employed a genetic approach within a restoration context to shed light on the links between genetics and restoration. These articles were then classified on whether they examined association between genetics and fitness or the application of genetics in demographic studies, and on the way the studies informed restoration practice. Although genetic research in restoration is rapidly growing, we found that studies could make better use of the extensive toolbox developed by applied fields in genetics. Overall, 41% of reviewed studies used genetic information to evaluate or monitor restoration, and 59% provided genetic information to guide prerestoration decision-making processes. Reviewed studies suggest that restoration practitioners often overlook the importance of including genetic aspects within their restoration goals. Even though there is a genetic basis influencing the provision of ecosystem services, few studies explored this relationship. We provide a view of research gaps, future directions and challenges in the genetics of restoration. © 2014 John Wiley & Sons Ltd.

  14. Genetic Contributions to Clinical Pain and Analgesia: Avoiding Pitfalls in Genetic Research

    Science.gov (United States)

    Kim, Hyungsuk; Clark, David; Dionne, Raymond A.

    2010-01-01

    Understanding the genetic basis of human variations in pain is critical to elucidating the molecular basis of pain sensitivity, variable responses to analgesic drugs, and, ultimately, to individualized treatment of pain and improved public health. With the help of recently accumulated knowledge and advanced technologies, pain researchers hope to gain insight into genetic mechanisms of pain and eventually apply this knowledge to pain treatment. Perspective We critically reviewed the published literature to examine the strength of evidence supporting genetic influences on clinical and human experimental pain. Based on this evidence and the experience of false associations that have occurred in other related disciplines, we provide recommendations for avoiding pitfalls in pain genetic research. PMID:19559388

  15. Medical Genetics and the First Studies of the Genetics of Populations in Mexico.

    Science.gov (United States)

    Barahona, Ana

    2016-09-01

    Following World War II (WWII), there was a new emphasis within genetics on studying the genetic composition of populations. This probably had a dual source in the growing strength of evolutionary biology and the new international interest in understanding the effects of radiation on human populations, following the atomic bombings in Japan. These global concerns were shared by Mexican physicians. Indeed, Mexico was one of the leading centers of this trend in human genetics. Three leading players in this story were Mario Salazar Mallén, Adolfo Karl, and Rubén Lisker. Their trajectories and the international networks in human genetics that were established after WWII, paved the way for the establishment of medical and population genetics in Mexico. Salazar Mallén's studies on the distribution and characterization of ABO blood groups in indigenous populations were the starting point while Karl's studies on the distribution of abnormal hemoglobin in Mexican indigenous populations showed the relationships observed in other laboratories at the time. It was Lisker's studies, however, that were instrumental in the development of population genetics in the context of national public policies for extending health care services to the Mexican population. In particular, he conducted studies on Mexican indigenous groups contributing to the knowledge of the biological diversity of human populations according to international trends that focused on the variability of human populations in terms of genetic frequencies. From the start, however, Lisker was as committed to the reconstruction of shared languages and practices as he was to building networks of collaboration in order to guarantee the necessary groundwork for establishing the study of the genetics of human populations in Mexico. This study also allows us to place Mexican science within a global context in which connected narratives describe the interplay between global trends and national contexts. Copyright © 2016 by

  16. Tidal marsh plant responses to elevated CO2 , nitrogen fertilization, and sea level rise.

    Science.gov (United States)

    Adam Langley, J; Mozdzer, Thomas J; Shepard, Katherine A; Hagerty, Shannon B; Patrick Megonigal, J

    2013-05-01

    Elevated CO2 and nitrogen (N) addition directly affect plant productivity and the mechanisms that allow tidal marshes to maintain a constant elevation relative to sea level, but it remains unknown how these global change drivers modify marsh plant response to sea level rise. Here we manipulated factorial combinations of CO2 concentration (two levels), N availability (two levels) and relative sea level (six levels) using in situ mesocosms containing a tidal marsh community composed of a sedge, Schoenoplectus americanus, and a grass, Spartina patens. Our objective is to determine, if elevated CO2 and N alter the growth and persistence of these plants in coastal ecosystems facing rising sea levels. After two growing seasons, we found that N addition enhanced plant growth particularly at sea levels where plants were most stressed by flooding (114% stimulation in the + 10 cm treatment), and N effects were generally larger in combination with elevated CO2 (288% stimulation). N fertilization shifted the optimal productivity of S. patens to a higher sea level, but did not confer S. patens an enhanced ability to tolerate sea level rise. S. americanus responded strongly to N only in the higher sea level treatments that excluded S. patens. Interestingly, addition of N, which has been suggested to accelerate marsh loss, may afford some marsh plants, such as the widespread sedge, S. americanus, the enhanced ability to tolerate inundation. However, if chronic N pollution reduces the availability of propagules of S. americanus or other flood-tolerant species on the landscape scale, this shift in species dominance could render tidal marshes more susceptible to marsh collapse. © 2013 Blackwell Publishing Ltd.

  17. What Use Is Population Genetics?

    Science.gov (United States)

    Charlesworth, Brian

    2015-07-01

    The Genetic Society of America's Thomas Hunt Morgan Medal is awarded to an individual GSA member for lifetime achievement in the field of genetics. For over 40 years, 2015 recipient Brian Charlesworth has been a leader in both theoretical and empirical evolutionary genetics, making substantial contributions to our understanding of how evolution acts on genetic variation. Some of the areas in which Charlesworth's research has been most influential are the evolution of sex chromosomes, transposable elements, deleterious mutations, sexual reproduction, and life history. He also developed the influential theory of background selection, whereby the recurrent elimination of deleterious mutations reduces variation at linked sites, providing a general explanation for the correlation between recombination rate and genetic variation. Copyright © 2015 by the Genetics Society of America.

  18. Desktop Genetics

    OpenAIRE

    Hough, Soren H; Ajetunmobi, Ayokunmi; Brody, Leigh; Humphryes-Kirilov, Neil; Perello, Edward

    2016-01-01

    Desktop Genetics is a bioinformatics company building a gene-editing platform for personalized medicine. The company works with scientists around the world to design and execute state-of-the-art clustered regularly interspaced short palindromic repeats (CRISPR) experiments. Desktop Genetics feeds the lessons learned about experimental intent, single-guide RNA design and data from international genomics projects into a novel CRISPR artificial intelligence system. We believe that machine learni...

  19. Prudent Protomognathus and despotic Leptothorax duloticus: Differential costs of ant slavery

    Science.gov (United States)

    Hare, James F.; Alloway, Thomas M.

    2001-01-01

    The concept of ant slavery rests on the untested assumption that slave-making ants impose fitness costs on colonies of the species they raid. We tested that assumption by comparing the summertime seasonal productivity of Leptothorax spp. colonies in field exclosures without slavemakers, with a colony of the obligatory slave-making ant Protomognathus americanus, or with a colony of the obligatory slavemaker Leptothorax duloticus. Leptothorax longispinosus colonies placed in exclosures with P. americanus colonies did not differ significantly in any demographic attribute from colonies in exclosures without slavemakers. By contrast, Leptothorax curvispinosus colonies exposed to L. duloticus experienced significant reductions in dealate queens, workers, and larvae relative to control colonies exclosed without slavemakers. The pronounced difference in the impact of these slavemakers on their host-species populations correlates with differences in the behavior of the slavemakers observed in the laboratory and likely explains why P. americanus is more abundant than L. duloticus in nature. It seems that more advanced social parasites, like anatomical parasites, evolve to minimize their impact on their hosts, and thus can be regarded as “prudent social parasites.” PMID:11572933

  20. Genetic Testing Registry

    Science.gov (United States)

    ... RefSeqGene UniGene All Genes & Expression Resources... Genetics & Medicine Bookshelf Database of Genotypes and Phenotypes (dbGaP) Genetic Testing ... ProtMap HomoloGene Protein Clusters All Homology Resources... Literature Bookshelf E-Utilities Journals in NCBI Databases MeSH Database ...

  1. Multi-population Genomic Relationships for Estimating Current Genetic Variances Within and Genetic Correlations Between Populations.

    Science.gov (United States)

    Wientjes, Yvonne C J; Bijma, Piter; Vandenplas, Jérémie; Calus, Mario P L

    2017-10-01

    Different methods are available to calculate multi-population genomic relationship matrices. Since those matrices differ in base population, it is anticipated that the method used to calculate genomic relationships affects the estimate of genetic variances, covariances, and correlations. The aim of this article is to define the multi-population genomic relationship matrix to estimate current genetic variances within and genetic correlations between populations. The genomic relationship matrix containing two populations consists of four blocks, one block for population 1, one block for population 2, and two blocks for relationships between the populations. It is known, based on literature, that by using current allele frequencies to calculate genomic relationships within a population, current genetic variances are estimated. In this article, we theoretically derived the properties of the genomic relationship matrix to estimate genetic correlations between populations and validated it using simulations. When the scaling factor of across-population genomic relationships is equal to the product of the square roots of the scaling factors for within-population genomic relationships, the genetic correlation is estimated unbiasedly even though estimated genetic variances do not necessarily refer to the current population. When this property is not met, the correlation based on estimated variances should be multiplied by a correction factor based on the scaling factors. In this study, we present a genomic relationship matrix which directly estimates current genetic variances as well as genetic correlations between populations. Copyright © 2017 by the Genetics Society of America.

  2. Genetic variation and its maintenance

    International Nuclear Information System (INIS)

    Roberts, D.F.; De Stefano, G.F.

    1986-01-01

    This book contains several papers divided among three sections. The section titles are: Genetic Diversity--Its Dimensions; Genetic Diversity--Its Origin and Maintenance; and Genetic Diversity--Applications and Problems of Complex Characters

  3. Mapping public policy on genetics.

    Science.gov (United States)

    Weisfeld, N E

    2002-06-01

    The mapping of the human genome and related advances in genetics are stimulating the development of public policies on genetics. Certain notions that currently prevail in public policy development overall--including the importance of protecting privacy of information, an interest in cost-effectiveness, and the power of the anecdote--will help determine the future of public policy on genetics. Information areas affected include discrimination by insurers and employers, confidentiality, genetic databanks, genetic testing in law enforcement, and court-ordered genetic testing in civil cases. Service issues address clinical standards, insurance benefits, allocation of resources, and screening of populations at risk. Supply issues encompass funding of research and clinical positions. Likely government actions include, among others: (1) Requiring individual consent for the disclosure of personal information, except when such consent would impose inordinate costs; (2) licensing genetic databases; (3) allowing courts to use personal information in cases where a refusal to use such information would offend the public; (4) mandating health insurers to pay for cost-effective genetic services; (5) funding pharmaceutical research to develop tailored products to prevent or treat diseases; and (6) funding training programs.

  4. Natural variation, an underexploited resource of genetic variation for plant genetics

    NARCIS (Netherlands)

    Alonso-Blanco, C.; Koornneef, M.

    2000-01-01

    The definition of gene functions requires the phenotypic characterization of genetic variants. Currently, such functional analysis of Arabidopsis genes is based largely on laboratory-induced mutants that are selected in forward and reverse genetic studies. An alternative complementary source of

  5. Provision of genetics services on Guam.

    Science.gov (United States)

    McWalter, Kirsty; Hasegawa, Lianne; Au, Sylvia Mann

    2013-12-01

    Guam's geographic isolation and lack of community resources have resulted in unique healthcare needs. In 2006, the Western States Genetic Services Collaborative (WSGSC) conducted a genetics needs assessment and found that professional development is limited, families lack access to genetic services, and improved coverage of genetic testing is needed. With funding from the WSGSC, a Guam genetics outreach clinic was established and staffed by genetic counselors and a medical geneticist from Hawaii. Four clinics have been held to date. Although several challenges have been encountered, including minimal coverage of genetic testing by Guam insurance companies, limited referrals for families with private insurance, and inappropriate referral indications, the outreach clinic has been successful at increasing access to genetic services and improving professional development. With more collaborative work by staff from Guam, Hawaii, and the WSGSC, provision and reimbursement of genetic services and testing will continue to improve.

  6. Journal of Genetics | Indian Academy of Sciences

    Indian Academy of Sciences (India)

    pp 223-226 Commentary on J. Genet. Classic. Towards a genetic architecture of cryptic genetic variation and genetic assimilation: the contribution of K. G. Bateman · Ian Dworkin · More Details Fulltext PDF. pp 227-257 J. Genet. Classic. The Genetic Assimilation of Four Venation Phenocopies (Published on 1959 J. Genet.

  7. Genetics of human body size and shape: pleiotropic and independent genetic determinants of adiposity.

    Science.gov (United States)

    Livshits, G; Yakovenko, K; Ginsburg, E; Kobyliansky, E

    1998-01-01

    The present study utilized pedigree data from three ethnically different populations of Kirghizstan, Turkmenia and Chuvasha. Principal component analysis was performed on a matrix of genetic correlations between 22 measures of adiposity, including skinfolds, circumferences and indices. Findings are summarized as follows: (1) All three genetic matrices were not positive definite and the first four factors retained even after exclusion RG > or = 1.0, explained from 88% to 97% of the total additive genetic variation in the 22 trials studied. This clearly emphasizes the massive involvement of pleiotropic gene effects in the variability of adiposity traits. (2) Despite the quite natural differences in pairwise correlations between the adiposity traits in the three ethnically different samples under study, factor analysis revealed a common basic pattern of covariability for the adiposity traits. In each of the three samples, four genetic factors were retained, namely, the amount of subcutaneous fat, the total body obesity, the pattern of distribution of subcutaneous fat and the central adiposity distribution. (3) Genetic correlations between the retained four factors were virtually non-existent, suggesting that several independent genetic sources may be governing the variation of adiposity traits. (4) Variance decomposition analysis on the obtained genetic factors leaves no doubt regarding the substantial familial and (most probably genetic) effects on variation of each factor in each studied population. The similarity of results in the three different samples indicates that the findings may be deemed valid and reliable descriptions of the genetic variation and covariation pattern of adiposity traits in the human species.

  8. Genetic effects

    International Nuclear Information System (INIS)

    Kato, Hiroo

    1975-01-01

    In 1948-1953 a large scale field survey was conducted to investigate the possible genetic effects of A-bomb radiation on over 70,000 pregnancy terminations in the cities of Hiroshima and Nagasaki. The indices of possible genetic effect including sex ratio, birth weight, frequency of malformation, stillbirth, neonatal death, deaths within 9 months and anthropometric measurements at 9 months of age for these children were investigated in relation to their parent's exposure status to the A-bomb. There were no detectable genetic effects in this sample, except for a slight change in sex ratio which was in the direction to be expected if exposure had induced sex-linked lethal mutations. However, continued study of the sex ratio, based upon birth certificates in Hiroshima and Nagasaki for 1954-1962, did not confirm the earlier trend. Mortality in these children of A-bomb survivors is being followed using a cohort of 54,000 subjects. No clearly significant effect of parental exposure on survival of the children has been demonstrated up to 1972 (age 17 on the average). On the basis of the regression data, the minimal genetic doubling dose of this type of radiation for mutations resulting in death is estimated at 46 rem for the father and 125 rem for the mother. (auth.)

  9. Abstracts of the 47. Brazilian congress on genetics. Genetics in the 21st century: challenges

    International Nuclear Information System (INIS)

    2001-01-01

    Use of radioisotopes and ionizing radiations in genetics is presented. Several aspects related to men, animals,plants and microorganisms are reported highlighting evolution, mutagenesis and genetic engineering. Genetic mapping, polymerase chain reaction, gene mutations, genetic diversity, DNA hybridization, DNA sequencing, use of radioisotopes in diagnosis, plant cultivation, plant improvement and effects of ionizing radiations on plant grow are studied as well

  10. Genetics Home Reference: Farber lipogranulomatosis

    Science.gov (United States)

    ... features. Type 1 is the most common, or classical, form of this condition and is associated with ... be inherited? More about Inheriting Genetic Conditions Diagnosis & Management Resources Genetic Testing (1 link) Genetic Testing Registry: ...

  11. Genetic and environmental interactions

    International Nuclear Information System (INIS)

    Strong, L.C.

    1977-01-01

    Cancer may result from a multistage process occurring over a long period of time. Presumably, initial and progressive stages of carcinogenesis may be modified by both genetic and environmental factors. Theoretically, genetic factors may alter susceptibility to the carcinogenic effects of an environmental agent at the initial exposure due to variation in metabolism of the carcinogen or variation in specific target cell response to the active carcinogen, or during the latent phase due to numerous factors that might increase the probability of tumor expression, including growth-promoting factors or immunodeficiency states. Observed genetic and environmental interactions in carcinogenesis include an association between genetically determined inducibility of aryl hydrocarbon hydroxylase and smoking-related cancers, familial susceptibility to certain environmental carcinogens, an association between hereditary disorders of mutagenesis and carcinogenesis, and enhancement of tissue-specific, dominantly inherited tumor predisposition by radiation. Multiple primary tumors occur frequently in genetically predisposed individuals. Specific markers for susceptibility must be sought in order that high-risk individuals be identified and appropriate measures taken for early cancer detection or prevention. Study of the nature of the genetically determined susceptibility and interactions with environmental agents may be revealing in the understanding of carcinogenesis in general

  12. Going forward with genetics: recent technological advances and forward genetics in mice.

    Science.gov (United States)

    Moresco, Eva Marie Y; Li, Xiaohong; Beutler, Bruce

    2013-05-01

    Forward genetic analysis is an unbiased approach for identifying genes essential to defined biological phenomena. When applied to mice, it is one of the most powerful methods to facilitate understanding of the genetic basis of human biology and disease. The speed at which disease-causing mutations can be identified in mutagenized mice has been markedly increased by recent advances in DNA sequencing technology. Creating and analyzing mutant phenotypes may therefore become rate-limiting in forward genetic experimentation. We review the forward genetic approach and its future in the context of recent technological advances, in particular massively parallel DNA sequencing, induced pluripotent stem cells, and haploid embryonic stem cells. Copyright © 2013 American Society for Investigative Pathology. Published by Elsevier Inc. All rights reserved.

  13. Genetics and epigenetics of obesity

    OpenAIRE

    Herrera, Blanca M.; Keildson, Sarah; Lindgren, Cecilia M.

    2011-01-01

    Obesity results from interactions between environmental and genetic factors. Despite a relatively high heritability of common, non-syndromic obesity (40?70%), the search for genetic variants contributing to susceptibility has been a challenging task. Genome wide association (GWA) studies have dramatically changed the pace of detection of common genetic susceptibility variants. To date, more than 40 genetic variants have been associated with obesity and fat distribution. However, since these v...

  14. Formal genetic maps

    African Journals Online (AJOL)

    Mohammad Saad Zaghloul Salem

    2014-12-24

    Dec 24, 2014 ... ome/transcriptome/proteome, experimental induced maps that are intentionally designed and con- ... genetic maps imposed their application in nearly all fields of medical genetics including ..... or genes located adjacent to, or near, them. ...... types of markers, e.g., clinical markers (eye color), genomic.

  15. On Gene Concepts and Teaching Genetics: Episodes from Classical Genetics

    Science.gov (United States)

    Burian, Richard M.

    2013-01-01

    This paper addresses the teaching of advanced high school courses or undergraduate courses for non-biology majors about genetics or history of genetics. It will probably be difficult to take the approach described here in a high school science course, although the general approach could help improve such courses. It would be ideal for a college…

  16. Molecular genetic diversity and genetic structure of Vietnamese indigenous pig populations

    DEFF Research Database (Denmark)

    Pham, L. D.; Do, Duy Ngoc; Nam, L. Q.

    2014-01-01

    The study characterized genetic diversity and genetic structure of five indigenous pig populations (Ha Lang, Muong Te, Mong Cai, Lung and Lung Pu), two wild pig populations (Vietnamese and Thai wild pigs) and an exotic pig breed (Yorkshire) using FAO/ISAG recommended 16 microsatellite markers...

  17. Genetic effects of ionizing radiation

    International Nuclear Information System (INIS)

    Myers, D.K.; Childs, J.D.

    1980-01-01

    The genetic material in living organisms is susceptible to damage from a wide variety of causes including radiation exposure. Most of this damage is repaired by the organism; the residual damage and damage which is not correctly repaired can lead to genetic changes such as mutations. In lower organisms, most offspring carry an unaltered copy of the genetic information that was present in the parental organism, most of the genetic changes which do occur are not caused by natural background radiation, and the increase in frequency of genetic changes after irradiation at low-dose rates is directly proportional to total radiation dose. The same principles appear to be valid in mammals and other higher organisms. About 105 out of every 1000 humans born suffer from some genetic or partly-genetic condition requiring medical attention at some time. It has been estimated that approximately 1 person in every 2000 born carry a deleterious genetic mutation that was caused by the continued exposure of many generations of our ancestors to natural background radiation. On the same basis, it is predicted that the incidence of genetic diseases would be increased to 106 per 1000 in the children and grandchildren of radiation workers who were exposed to 1 rem per year commencing at age 18. However, there was no detectable change in the health and fitness of mice whose male ancestors were repeatedly exposed to high radiation doses up to 900 rem per generation. (auth)

  18. Conservation genetics of Iberian raptors

    Directory of Open Access Journals (Sweden)

    Martinez–Cruz, B.

    2011-12-01

    Full Text Available In this paper I provide an overview of conservation genetics and describe the management actions in the wild that can benefit from conservation genetic studies. I describe the genetic factors of risk for the survival of wild species, the consequences of loss of genetic diversity, inbreeding and outbreeding depression, and the use of genetic tools to delimitate units of conservation. Then I introduce the most common applications of conservation genetics in the management of wild populations. In a second part of the paper I review the conservation genetic studies carried on the Iberian raptors. I introduce several studies on the Spanish imperial eagle, the bearded vulture, the black vulture and the red kite that were carried out using autosomal microsatellite markers and mitochondrial DNA (mtDNA sequencing. I describe studies on the lesser kestrel and Egyptian vulture that additionally applied major histocompatibility complex (MHC markers, with the purpose of incorporating the study of non–neutral variation. For every species I explain how these studies can be and/or are applied in the strategy of conservation in the wild.

  19. Clinical applications of preimplantation genetic testing.

    Science.gov (United States)

    Brezina, Paul R; Kutteh, William H

    2015-02-19

    Genetic diagnostic technologies are rapidly changing the way medicine is practiced. Preimplantation genetic testing is a well established application of genetic testing within the context of in vitro fertilization cycles. It involves obtaining a cell(s) from a developing embryo in culture, which is then subjected to genetic diagnostic analysis; the resulting information is used to guide which embryos are transferred into the uterus. The potential applications and use of this technology have increased in recent years. Experts agree that preimplantation genetic diagnosis is clinically appropriate for many known genetic disorders. However, some applications of such testing, such as preimplantation genetic screening for aneuploidy, remain controversial. Clinical data suggest that preimplantation genetic screening may be useful, but further studies are needed to quantify the size of the effect and who would benefit most. © BMJ Publishing Group Ltd 2015.

  20. Genetic cancer risk assessment in practice

    International Nuclear Information System (INIS)

    Gruber, S.

    2004-01-01

    The advent of genetic testing has made a dramatic impact on the management of individuals with inherited susceptibility to cancer and their relatives. Genetic counsel ing, with or without testing, is warranted when clues to familial cancer are recognized. Today, genetic testing for classic cancer genetic syndromes is now the standard of care, and has been complemented by genetic testing for other situations commonly encountered in clinical practice. Genetic testing for colorectal cancer, breast cancer, kidney cancer, thyroid cancer, melanoma, and pancreatic cancer raise important issues about the parameters for testing. Genetic cancer risk assessment can lead to measurable reductions in morbidity and mortality through strategies that rely on surveillance, chemo prevention, and risk-reducing surgery

  1. Genetic variations in multiple myeloma I

    DEFF Research Database (Denmark)

    Vangsted, A.; Klausen, T.W.; Vogel, Ulla Birgitte

    2012-01-01

    Few risk factors have been established for the plasma cell disorder multiple myeloma, but some of these like African American ethnicity and a family history of B-cell lymphoproliferative diseases suggest a genetic component for the disease. Genetic variation represents the genetic basis of variab......Few risk factors have been established for the plasma cell disorder multiple myeloma, but some of these like African American ethnicity and a family history of B-cell lymphoproliferative diseases suggest a genetic component for the disease. Genetic variation represents the genetic basis...

  2. Foundations of genetic algorithms 1991

    CERN Document Server

    1991-01-01

    Foundations of Genetic Algorithms 1991 (FOGA 1) discusses the theoretical foundations of genetic algorithms (GA) and classifier systems.This book compiles research papers on selection and convergence, coding and representation, problem hardness, deception, classifier system design, variation and recombination, parallelization, and population divergence. Other topics include the non-uniform Walsh-schema transform; spurious correlations and premature convergence in genetic algorithms; and variable default hierarchy separation in a classifier system. The grammar-based genetic algorithm; condition

  3. Genetics of hereditary neurological disorders in children.

    Science.gov (United States)

    Huang, Yue; Yu, Sui; Wu, Zhanhe; Tang, Beisha

    2014-04-01

    Hereditary neurological disorders (HNDs) are relatively common in children compared to those occurring in adulthood. Recognising clinical manifestations of HNDs is important for the selection of genetic testing, genetic testing results interpretation, and genetic consultation. Meanwhile, advances in next generation sequencing (NGS) technologies have significantly enabled the discovery of genetic causes of HNDs and also challenge paediatricians on applying genetic investigation. Combination of both clinical information and advanced technologies will enhance the genetic test yields in clinical setting. This review summarises the clinical presentations as well as genetic causes of paediatric neurological disorders in four major areas including movement disorders, neuropsychiatric disorders, neuron peripheral disorders and epilepsy. The aim of this review is to help paediatric neurologists not only to see the clinical features but also the complex genetic aspect of HNDs in order to utilise genetic investigation confidently in their clinical practice. A smooth transition from research based to clinical use of comprehensive genetic testing in HNDs in children could be foreseen in the near future while genetic testing, genetic counselling and genetic data interpretation are in place appropriately.

  4. [Genetic aspects of genealogy].

    Science.gov (United States)

    Tetushkin, E Iu

    2011-11-01

    The supplementary historical discipline genealogy is also a supplementary genetic discipline. In its formation, genetics borrowed from genealogy some methods of pedigree analysis. In the 21th century, it started receiving contribution from computer-aided genealogy and genetic (molecular) genealogy. The former provides novel tools for genetics, while the latter, which employing genetic methods, enriches genetics with new evidence. Genealogists formulated three main laws ofgenealogy: the law of three generations, the law of doubling the ancestry number, and the law of declining ancestry. The significance and meaning of these laws can be fully understood only in light of genetics. For instance, a controversy between the exponential growth of the number of ancestors of an individual, i.e., the law of doubling the ancestry number, and the limited number of the humankind is explained by the presence of weak inbreeding because of sibs' interference; the latter causes the pedigrees' collapse, i.e., explains also the law of diminishing ancestry number. Mathematic modeling of pedigrees' collapse presented in a number of studies showed that the number of ancestors of each individual attains maximum in a particular generation termed ancestry saturated generation. All representatives of this and preceding generation that left progeny are common ancestors of all current members of the population. In subdivided populations, these generations are more ancient than in panmictic ones, whereas in small isolates and social strata with limited numbers of partners, they are younger. The genealogical law of three generations, according to which each hundred years contain on average three generation intervals, holds for generation lengths for Y-chromosomal DNA, typically equal to 31-32 years; for autosomal and mtDNA, this time is somewhat shorter. Moving along ascending lineas, the number of genetically effective ancestors transmitting their DNA fragment to descendants increases far

  5. Genetics Home Reference: ulcerative colitis

    Science.gov (United States)

    ... are some genetic conditions more common in particular ethnic groups? Genetic Changes A variety of genetic and environmental factors are likely involved in the development of ulcerative colitis . Recent studies have identified variations in dozens of genes that may be linked ...

  6. Genetical Genomics for Evolutionary Studies

    NARCIS (Netherlands)

    Prins, J.C.P.; Smant, G.; Jansen, R.C.

    2012-01-01

    Genetical genomics combines acquired high-throughput genomic data with genetic analysis. In this chapter, we discuss the application of genetical genomics for evolutionary studies, where new high-throughput molecular technologies are combined with mapping quantitative trait loci (QTL) on the genome

  7. Genetic effects

    International Nuclear Information System (INIS)

    Bender, M.A.; Abrahamson, S.; Denniston, C.; Schull, W.J.

    1989-01-01

    In this chapter, we present a comprehensive analysis of the major classes of genetic diseases that would be increased as a result of an increased gonadal radiation exposure to a human population. The risk analysis takes on two major forms: the increase in genetic disease that would be observed in the immediate offspring of the exposed population, and the subsequent transmission of the newly induced mutations through future generations. The major classes of genetic disease will be induced at different frequencies, and will also impact differentially in terms of survivability and fertility on the affected individuals and their descendants. Some classes of disease will be expected to persist for only a few generations at most. Other types of genetic disease will persist through a longer period. The classes of genetic diseases studied are: dominant gene mutation, X-linked gene mutation, chromosome disorders and multifactorial disorders which involve the interaction of many mutant genes and environmental factors. For each of these classes we have derived the general equations of mutation induction for the male and female germ cells of critical importance in the mutation process. The frequency of induced mutations will be determined initially by the dose received, the type of radiation and, to some extent at high dose, by the manner in which the dose is received. We have used the modeling analyses to predict the outcomes for two nuclear power plant accident scenarios, the first in which the population receives a chronic dose of 0.1 Gy (10 rad) over a 50-year period, the second in which an equivalent population receives an acute dose of 2 Gy. In both cases the analyses are projected over a period of five generations

  8. Genetic Causes of Recurrent Pregnancy Loss.

    Science.gov (United States)

    Page, Jessica M; Silver, Robert M

    2016-09-01

    Pregnancy loss is one of the most common obstetric complications, affecting over 30% of conceptions. A considerable proportion of losses are due to genetic abnormalities. Indeed, over 50% of early pregnancy losses have been associated with chromosomal abnormalities. Most are due to de novo nondisjunctional events but balanced parental translocations are responsible for a small but important percentage of genetic abnormalities in couples with recurrent pregnancy loss. In the past, assessment of genetic abnormalities was limited to karyotype performed on placental or fetal tissue. However, advances in molecular genetic technology now provide rich genetic information about additional genetic causes of and risk factors for pregnancy loss. In addition, the use of preimplantation genetic testing in couples undergoing in vitro fertilization has the potential to decrease the risk of pregnancy loss from genetic abnormalities. To date, efficacy is uncertain but considerable potential remains. This chapter will review what is known about genetic causes of recurrent pregnancy loss with a focus on novel causes and potential treatments. Remaining knowledge gaps will be highlighted.

  9. Reproductive cloning combined with genetic modification.

    Science.gov (United States)

    Strong, C

    2005-11-01

    Although there is widespread opposition to reproductive cloning, some have argued that its use by infertile couples to have genetically related children would be ethically justifiable. Others have suggested that lesbian or gay couples might wish to use cloning to have genetically related children. Most of the main objections to human reproductive cloning are based on the child's lack of unique nuclear DNA. In the future, it may be possible safely to create children using cloning combined with genetic modifications, so that they have unique nuclear DNA. The genetic modifications could be aimed at giving such children genetic characteristics of both members of the couple concerned. Thus, cloning combined with genetic modification could be appealing to infertile, lesbian, or gay couples who seek genetically related children who have genetic characteristics of both members. In such scenarios, the various objections to human reproductive cloning that are based on the lack of genetic uniqueness would no longer be applicable. The author argues that it would be ethically justifiable for such couples to create children in this manner, assuming these techniques could be used safely.

  10. [Prenatal genetic counseling and instruction for deaf families by genetic test].

    Science.gov (United States)

    Han, Ming-yu; Huang, Sha-sha; Wang, Guo-jian; Yuan, Yong-yi; Kang, Dong-yang; Zhang, Xin; Dai, Pu

    2011-11-01

    Analyzed the molecular pathogenesis of probands by means of genetic test and assisted the local Family Planning Institute by providing prenatal genetic counseling and instruction for deaf families who eager to have more baby. Total of forty-three deaf families were recruited by two institutes for family planning from Guangzhou and Weifang. Forty-two families had one deaf child with normal hearing parents. One family was that parents and their child were all deaf. Genetic testing of GJB2, SLC26A4 and mitochondrial DNA (mtDNA) 12SrRNA were firstly performed in probands and their parents, following medical history, physical examination, auditory test and CT scan of temporal bone were completed. And then the genetic information and instruction were provided to each deaf family. Fifteen of these 43 families had positive results of genetic test. In fifteen families, one family was confirmed that the parents and their child all carried homozygous GJB2 mutations and the recurrence risk was 100%. Twelve families were confirmed that the probands carried homozygous/compound GJB2 or SLC26A4 mutations while their parents were GJB2 or SLC26A4 carriers, and the recurrence risk was 25%. One family was confirmed that the proband, diagnosed with enlarged vestibular aqueduct syndrome (EVAS) by CT scan, carried heterozygous SLC26A4 mutation from the mother, and the recurrence risk was still 25% based on the hereditary pattern of EVAS although another SLC26A4 mutation from the father was not found. One family was confirmed that the proband carried a heterozygous GJB2 mutation from the mother and the possibility to be GJB2 carrier for offsprings was 50%. The rest 28 families were that all probands and their parents did not carry GJB2, SLC26A4 and mtDNA 12SrRNA pathological mutation. Genetic testing can provide more accurate and useful prenatal genetic counseling and instruction to deaf families. Meanwhile, it is an ideal way to develop a cooperative relationship with the institute for

  11. Mapping DNA damage-dependent genetic interactions in yeast via party mating and barcode fusion genetics.

    Science.gov (United States)

    Díaz-Mejía, J Javier; Celaj, Albi; Mellor, Joseph C; Coté, Atina; Balint, Attila; Ho, Brandon; Bansal, Pritpal; Shaeri, Fatemeh; Gebbia, Marinella; Weile, Jochen; Verby, Marta; Karkhanina, Anna; Zhang, YiFan; Wong, Cassandra; Rich, Justin; Prendergast, D'Arcy; Gupta, Gaurav; Öztürk, Sedide; Durocher, Daniel; Brown, Grant W; Roth, Frederick P

    2018-05-28

    Condition-dependent genetic interactions can reveal functional relationships between genes that are not evident under standard culture conditions. State-of-the-art yeast genetic interaction mapping, which relies on robotic manipulation of arrays of double-mutant strains, does not scale readily to multi-condition studies. Here, we describe barcode fusion genetics to map genetic interactions (BFG-GI), by which double-mutant strains generated via en masse "party" mating can also be monitored en masse for growth to detect genetic interactions. By using site-specific recombination to fuse two DNA barcodes, each representing a specific gene deletion, BFG-GI enables multiplexed quantitative tracking of double mutants via next-generation sequencing. We applied BFG-GI to a matrix of DNA repair genes under nine different conditions, including methyl methanesulfonate (MMS), 4-nitroquinoline 1-oxide (4NQO), bleomycin, zeocin, and three other DNA-damaging environments. BFG-GI recapitulated known genetic interactions and yielded new condition-dependent genetic interactions. We validated and further explored a subnetwork of condition-dependent genetic interactions involving MAG1 , SLX4, and genes encoding the Shu complex, and inferred that loss of the Shu complex leads to an increase in the activation of the checkpoint protein kinase Rad53. © 2018 The Authors. Published under the terms of the CC BY 4.0 license.

  12. Genetic specificity of face recognition.

    Science.gov (United States)

    Shakeshaft, Nicholas G; Plomin, Robert

    2015-10-13

    Specific cognitive abilities in diverse domains are typically found to be highly heritable and substantially correlated with general cognitive ability (g), both phenotypically and genetically. Recent twin studies have found the ability to memorize and recognize faces to be an exception, being similarly heritable but phenotypically substantially uncorrelated both with g and with general object recognition. However, the genetic relationships between face recognition and other abilities (the extent to which they share a common genetic etiology) cannot be determined from phenotypic associations. In this, to our knowledge, first study of the genetic associations between face recognition and other domains, 2,000 18- and 19-year-old United Kingdom twins completed tests assessing their face recognition, object recognition, and general cognitive abilities. Results confirmed the substantial heritability of face recognition (61%), and multivariate genetic analyses found that most of this genetic influence is unique and not shared with other cognitive abilities.

  13. The Emergence of Genetic Counseling in Sweden: Examples from Eugenics and Medical Genetics.

    Science.gov (United States)

    Björkman, Maria

    2015-09-01

    This paper examines the intertwined relations between eugenics and medical genetics from a Swedish perspective in the 1940s and 1950s. The Swedish case shows that a rudimentary form of genetic counseling emerged within eugenic practices in the applications of the Swedish Sterilization Act of 1941, here analyzed from the phenomenon of "heredophobia" (ärftlighetsskräck). At the same time genetic counseling also existed outside eugenic practices, within the discipline of medical genetics. The paper argues that a demand for genetic counseling increased in the 1940s and 1950s in response to a sense of reproductive responsibility engendered by earlier eugenic discourse. The paper also questions the claim made by theoreticians of biopolitics that biological citizens have emerged only during the last decades, especially in neoliberal societies. From the Swedish case it is possible to argue that this had already happened earlier in relation to the proliferation of various aspects of eugenics to the public.

  14. How Are Genetic Conditions Treated or Managed?

    Science.gov (United States)

    ... mtDNA Resources Help Me Understand Genetics Share: Email Facebook Twitter Home Help Me Understand Genetics Genetic Consultation How are genetic conditions treated or managed? How are genetic conditions treated or managed? Many ...

  15. Genetic and Non-genetic Factors Associated WithConstipation in Cancer Patients Receiving Opioids

    OpenAIRE

    Laugsand, Eivor Alette; Skorpen, Frank; Kaasa, Stein; Sabatowski, Rainer; Strasser, Florian; Fayers, Peter; Klepstad, Pål

    2015-01-01

    Objectives: To examine whether the inter-individual variation in constipation among patients receiving opioids for cancer pain is associated with genetic or non-genetic factors. Methods: Cancer patients receiving opioids were included from 17 centers in 11 European countries. Intensity of constipation was reported by 1,568 patients on a four-point categorical scale. Non-genetic factors were included as covariates in stratified regression analyses on the association between constipation a...

  16. Transferability of Cucurbita SSR markers for genetic diversity assessment of Turkish bottle gourd (Lagenaria siceraria) genetic resources

    Science.gov (United States)

    The genetic diversity present in crop landraces represents a valuable genetic resource for breeding and genetic studies. Bottle gourd (Lagenaria siceraria) landraces in Turkey are highly genetically diverse. However, the limited genomic resources available for this crop hinder the molecular characte...

  17. Vegetable Genetic Resources in China

    Directory of Open Access Journals (Sweden)

    Haiping WANG

    2018-03-01

    Full Text Available China is recognized as an important region for plant biodiversity based on its vast and historical collection of vegetable germplasm. The aim of this review is to describe the exploration status of vegetable genetic resources in China, including their collection, preservation, evaluation, and utilization. China has established a number of national-level vegetable genetic resources preservation units, including the National Mid-term Genebank for Vegetable Germplasm Resources, the National Germplasm Repository for Vegetatively-Propagated Vegetables, and the National Germplasm Repository for Aquatic Vegetables. In 2015, at least 36 000 accessions were collected and preserved in these units. In the past decade, 44 descriptors and data standards for different species have been published, and most accessions have been evaluated for screening the germplasms for specific important traits such as morphological characteristics, disease resistance, pest resistance, and stress tolerance. Moreover, the genetic diversity and evolution of some vegetable germplasms have been evaluated at the molecular level. Recently, more than 1 000 accessions were distributed to researchers and breeders each year by various means for vegetable research and production. However, additional wild-relative and abroad germplasms from other regions need to be collected and preserved in the units to expand genetic diversity. Furthermore, there is a need to utilize advanced techniques to better understand the background and genetic diversity of a wide range of vegetable genetic resources. This review will provide agricultural scientists’ insights into the genetic diversity in China and provide information on the distribution and potential utilization of these valuable genetic resources. Keywords: vegetable, genetic resource, preservation, evaluation, utilization

  18. Methodological issues of genetic association studies.

    Science.gov (United States)

    Simundic, Ana-Maria

    2010-12-01

    Genetic association studies explore the association between genetic polymorphisms and a certain trait, disease or predisposition to disease. It has long been acknowledged that many genetic association studies fail to replicate their initial positive findings. This raises concern about the methodological quality of these reports. Case-control genetic association studies often suffer from various methodological flaws in study design and data analysis, and are often reported poorly. Flawed methodology and poor reporting leads to distorted results and incorrect conclusions. Many journals have adopted guidelines for reporting genetic association studies. In this review, some major methodological determinants of genetic association studies will be discussed.

  19. Genetic transformation of forest trees

    African Journals Online (AJOL)

    Admin

    In this review, the recent progress on genetic transformation of forest trees were discussed. Its described also, different applications of genetic engineering for improving forest trees or understanding the mechanisms governing genes expression in woody plants. Key words: Genetic transformation, transgenic forest trees, ...

  20. Genetically modified foods and allergy.

    Science.gov (United States)

    Lee, T H; Ho, H K; Leung, T F

    2017-06-01

    2015 marked the 25th anniversary of the commercial use and availability of genetically modified crops. The area of planted biotech crops cultivated globally occupies a cumulative two billion hectares, equivalent to twice the land size of China or the United States. Foods derived from genetically modified plants are widely consumed in many countries and genetically modified soybean protein is extensively used in processed foods throughout the industrialised countries. Genetically modified food technology offers a possible solution to meet current and future challenges in food and medicine. Yet there is a strong undercurrent of anxiety that genetically modified foods are unsafe for human consumption, sometimes fuelled by criticisms based on little or no firm evidence. This has resulted in some countries turning away food destined for famine relief because of the perceived health risks of genetically modified foods. The major concerns include their possible allergenicity and toxicity despite the vigorous testing of genetically modified foods prior to marketing approval. It is imperative that scientists engage the public in a constructive evidence-based dialogue to address these concerns. At the same time, improved validated ways to test the safety of new foods should be developed. A post-launch strategy should be established routinely to allay concerns. Mandatory labelling of genetically modified ingredients should be adopted for the sake of transparency. Such ingredient listing and information facilitate tracing and recall if required.

  1. Genetic dissection of mammalian ERAD through comparative haploid and CRISPR forward genetic screens

    DEFF Research Database (Denmark)

    Timms, Richard T.; Menzies, Sam A.; Tchasovnikarova, Iva A.

    2016-01-01

    The application of forward genetic screens to cultured human cells represents a powerful method to study gene function. The repurposing of the bacterial CRISPR/Cas9 system provides an effective method to disrupt gene function in mammalian cells, and has been applied to genome-wide screens. Here, we...... compare the efficacy of genome-wide CRISPR/Cas9-mediated forward genetic screens versus gene-trap mutagenesis screens in haploid human cells, which represent the existing ‘gold standard’ method. This head-to-head comparison aimed to identify genes required for the endoplasmic reticulum....../3-associated disulphide reductase. Genome-wide CRISPR/Cas9-mediated screens together with haploid genetic screens provide a powerful addition to the forward genetic toolbox....

  2. The Tourette International Collaborative Genetics (TIC Genetics) study, finding the genes causing Tourette syndrome

    DEFF Research Database (Denmark)

    Dietrich, Andrea; Fernandez, Thomas V; King, Robert A

    2015-01-01

    Tourette syndrome (TS) is a neuropsychiatric disorder characterized by recurrent motor and vocal tics, often accompanied by obsessive-compulsive disorder and/or attention-deficit/hyperactivity disorder. While the evidence for a genetic contribution is strong, its exact nature has yet to be clarif......Tourette syndrome (TS) is a neuropsychiatric disorder characterized by recurrent motor and vocal tics, often accompanied by obsessive-compulsive disorder and/or attention-deficit/hyperactivity disorder. While the evidence for a genetic contribution is strong, its exact nature has yet......, it is clear that large patient cohorts and open-access repositories will be essential to further advance the field. To that end, the large multicenter Tourette International Collaborative Genetics (TIC Genetics) study was established. The goal of the TIC Genetics study is to undertake a comprehensive gene...... discovery effort, focusing both on familial genetic variants with large effects within multiply affected pedigrees and on de novo mutations ascertained through the analysis of apparently simplex parent-child trios with non-familial tics. The clinical data and biomaterials (DNA, transformed cell lines, RNA...

  3. The New Genetics and Natural versus Artificial Genetic Modification

    Directory of Open Access Journals (Sweden)

    Mae-Wan Ho

    2013-11-01

    Full Text Available The original rationale and impetus for artificial genetic modification was the “central dogma” of molecular biology that assumed DNA carries all the instructions for making an organism, which are transmitted via RNA to protein to biological function in linear causal chains. This is contrary to the reality of the “fluid genome” that has emerged since the mid-1970s. In order to survive, the organism needs to engage in natural genetic modification in real time, an exquisitely precise molecular dance of life with RNA and DNA responding to and participating in “downstream” biological functions. Artificial genetic modification, in contrast, is crude, imprecise, and interferes with the natural process. It drives natural systems towards maximum biosemiotic entropy as the perturbations are propagated and amplified through the complex cascades of interactions between subsystems that are essential for health and longevity.

  4. Attitudes towards genetic testing: analysis of contradictions

    DEFF Research Database (Denmark)

    Jallinoja, P; Hakonen, A; Aro, A R

    1998-01-01

    A survey study was conducted among 1169 people to evaluate attitudes towards genetic testing in Finland. Here we present an analysis of the contradictions detected in people's attitudes towards genetic testing. This analysis focuses on the approval of genetic testing as an individual choice and o...... studies on attitudes towards genetic testing as well as in the health care context, e.g. in genetic counselling.......A survey study was conducted among 1169 people to evaluate attitudes towards genetic testing in Finland. Here we present an analysis of the contradictions detected in people's attitudes towards genetic testing. This analysis focuses on the approval of genetic testing as an individual choice...... and on the confidence in control of the process of genetic testing and its implications. Our analysis indicated that some of the respondents have contradictory attitudes towards genetic testing. It is proposed that contradictory attitudes towards genetic testing should be given greater significance both in scientific...

  5. [Quality assurance in human genetic testing].

    Science.gov (United States)

    Stuhrmann-Spangenberg, Manfred

    2015-02-01

    Advances in technical developments of genetic diagnostics for more than 50 years, as well as the fact that human genetic testing is usually performed only once in a lifetime, with additional impact for blood relatives, are determining the extraordinary importance of quality assurance in human genetic testing. Abidance of laws, directives, and guidelines plays a major role. This article aims to present the major laws, directives, and guidelines with respect to quality assurance of human genetic testing, paying careful attention to internal and external quality assurance. The information on quality assurance of human genetic testing was obtained through a web-based search of the web pages that are referred to in this article. Further information was retrieved from publications in the German Society of Human Genetics and through a PubMed-search using term quality + assurance + genetic + diagnostics. The most important laws, directives, and guidelines for quality assurance of human genetic testing are the gene diagnostics law (GenDG), the directive of the Federal Medical Council for quality control of clinical laboratory analysis (RiliBÄK), and the S2K guideline for human genetic diagnostics and counselling. In addition, voluntary accreditation under DIN EN ISO 15189:2013 offers a most recommended contribution towards quality assurance of human genetic testing. Legal restraints on quality assurance of human genetic testing as mentioned in § 5 GenDG are fulfilled once RiliBÄK requirements are followed.

  6. Molecular genetic researches on the radiation genetics of Drosophila in JINR

    International Nuclear Information System (INIS)

    Afanas'eva, K.P.; Aleksandrova, M.V.; Aleksandrov, I.D.

    2016-01-01

    Molecular genetic studies of radiation-induced heritable DNA lesions are carried out by the genetic group of Laboratory of nuclear problem in Joint Institute for Nuclear Research. The first results of molecular analysis of γ –ray- and neutron-induced vestigial mutations using PCR and sequencing will be presented. (authors)

  7. Translation and genetic criticism : genetic and editorial approaches to the 'untranslatable' in Joyce and Beckett

    OpenAIRE

    Hulle, Van, Dirk

    2015-01-01

    Abstract: Genetics of translation may suggest a unidirectional link between two fields of research (genetic criticism applied to translation), but there are many ways in which translation and genetic criticism interact. This article's research hypothesis is that an exchange of ideas between translation studies and genetic criticism can be mutually beneficial in more than one way. The main function of this exchange is to enhance a form of textual awareness, and to realize this enhanced textual...

  8. Genetics of complex diseases

    DEFF Research Database (Denmark)

    Mellerup, Erling; Møller, Gert Lykke; Koefoed, Pernille

    2012-01-01

    A complex disease with an inheritable component is polygenic, meaning that several different changes in DNA are the genetic basis for the disease. Such a disease may also be genetically heterogeneous, meaning that independent changes in DNA, i.e. various genotypes, can be the genetic basis...... for the disease. Each of these genotypes may be characterized by specific combinations of key genetic changes. It is suggested that even if all key changes are found in genes related to the biology of a certain disease, the number of combinations may be so large that the number of different genotypes may be close...... to the number of patients suffering from the disease. This hypothesis is based on a study of bipolar disorder....

  9. Moral Fantasy in Genetic Engineering.

    Science.gov (United States)

    Boone, C. Keith

    1984-01-01

    Discusses the main ethical issues generated by the new genetics and suggests ways to think about them. Concerns include "playing God," violation of the natural order of the universe, and abuse of genetic technology. Critical distinctions for making difficult decisions about genetic engineering issues are noted. (DH)

  10. Genetics and developmental biology of cooperation

    Czech Academy of Sciences Publication Activity Database

    Kasper, C.; Vierbuchen, M.; Ernst, Ulrich R.; Fischer, S.; Radersma, R.; Raulo, A.; Cunha-Saraiva, F.; Wu, M.; Mobley, K. B.; Taborsky, B.

    2017-01-01

    Roč. 26, č. 17 (2017), s. 4364-4377 ISSN 0962-1083 Institutional support: RVO:61388963 Keywords : altruism * behaviour * indirect genetic effects * social behaviour * social effects Subject RIV: EB - Genetics ; Molecular Biology OBOR OECD: Genetics and heredity (medical genetics to be 3) Impact factor: 6.086, year: 2016

  11. Genetic manipulation of Francisella tularensis

    Directory of Open Access Journals (Sweden)

    Xhavit eZogaj

    2011-01-01

    Full Text Available Francisella tularensis is a facultative intracellular pathogen that causes the disease tularemia. F. tularensis subsp. tularensis causes the most severe disease in humans and has been classified as a select A agent and potential bioweapon. There is currently no vaccine approved for human use, making genetic manipulation of this organism critical to unraveling the genetic basis of pathogenesis and developing countermeasures against tularemia. The development of genetic techniques applicable to F. tularensis have lagged behind those routinely used for other bacteria, primarily due to lack of research and the restricted nature of the biocontainment required for studying this pathogen. However, in recent years, genetic techniques, such as transposon mutagenesis and targeted gene disruption, have been developed, that have had a dramatic impact on our understanding of the genetic basis of F. tularensis virulence. In this review, we describe some of the methods developed for genetic manipulation of F. tularensis.

  12. Genetic doping and health damages.

    Science.gov (United States)

    Fallahi, Aa; Ravasi, Aa; Farhud, Dd

    2011-01-01

    Use of genetic doping or gene transfer technology will be the newest and the lethal method of doping in future and have some unpleasant consequences for sports, athletes, and outcomes of competitions. The World Anti-Doping Agency (WADA) defines genetic doping as "the non-therapeutic use of genes, genetic elements, and/or cells that have the capacity to enhance athletic performance ". The purpose of this review is to consider genetic doping, health damages and risks of new genes if delivered in athletes. This review, which is carried out by reviewing relevant publications, is primarily based on the journals available in GOOGLE, ELSEVIER, PUBMED in fields of genetic technology, and health using a combination of keywords (e.g., genetic doping, genes, exercise, performance, athletes) until July 2010. There are several genes related to sport performance and if they are used, they will have health risks and sever damages such as cancer, autoimmunization, and heart attack.

  13. Evaluating human genetic diversity

    National Research Council Canada - National Science Library

    This book assesses the scientific value and merit of research on human genetic differences--including a collection of DNA samples that represents the whole of human genetic diversity--and the ethical...

  14. Intellectual property right in genetic resources

    Directory of Open Access Journals (Sweden)

    Milošević Mirjana

    2017-01-01

    Full Text Available Plant genetic resources for food and agriculture are necessary in food production and biodiversity conservation. These are the most important natural resources, in addition to air, water and soil. Unfortunately, during the evolution large number of plant genetic resources has been lost. The biggest negative impact on loss of plant genetic resources had been made by humans through the modernization of agriculture and the creation of varieties of high genetic uniformity. FAO and its operation through international mechanisms, such as the adoption of the Convention on Biological Diversity, the first legal act which regulates all levels of biodiversity: ecosystems, species and genetic resources, biotechnology, including the Cartagena Protocol on Biosafety (regulates the transfer of genetic material across the border, contributed to the conservation of plant genetic resources for food and agriculture. In addition to the Convention on Biological Diversity, FAO has been defined by the International Treaty on Plant Genetic Resources for Food and Agriculture in more specific and detailed way, the preservation of genetic resources. The objectives of the International Treaty on Plant Genetic Resources for Food and Agriculture are the conservation and sustainable use of all plant genetic resources for food and agriculture and the fair and equitable sharing of the benefits arising out of their use. There are four basic pillars which form the substance of the Contract, Sustainable use of plant genetic resources, Farmers' Rights, the Multilateral System and the Global Information System. Two organizations, the International Biodiversity and the International Union for the Protection of New Varieties of Plants trying to solve the issues of protection of the population and old varieties as intellectual property.

  15. Counseling Customers: Emerging Roles for Genetic Counselors in the Direct-to-Consumer Genetic Testing Market

    NARCIS (Netherlands)

    Harris, A.; Kelly, S.; Wyatt, S.

    2013-01-01

    Individuals now have access to an increasing number of internet resources offering personal genomics services. As the direct-to-consumer genetic testing (DTC GT) industry expands, critics have called for pre- and post-test genetic counseling to be included with the product. Several genetic testing

  16. Genetic autonomic disorders.

    Science.gov (United States)

    Axelrod, Felicia B

    2013-03-01

    Genetic disorders affecting the autonomic nervous system can result in abnormal development of the nervous system or they can be caused by neurotransmitter imbalance, an ion-channel disturbance or by storage of deleterious material. The symptoms indicating autonomic dysfunction, however, will depend upon whether the genetic lesion has disrupted peripheral or central autonomic centers or both. Because the autonomic nervous system is pervasive and affects every organ system in the body, autonomic dysfunction will result in impaired homeostasis and symptoms will vary. The possibility of genetic confirmation by molecular testing for specific diagnosis is increasing but treatments tend to remain only supportive and directed toward particular symptoms. Copyright © 2013 Elsevier Inc. All rights reserved.

  17. Genetics of gallstone disease.

    Directory of Open Access Journals (Sweden)

    Mittal B

    2002-04-01

    Full Text Available Gallstone disease is a complex disorder where both environmental and genetic factors contribute towards susceptibility to the disease. Epidemiological and family studies suggest a strong genetic component in the causation of this disease. Several genetically derived phenotypes in the population are responsible for variations in lipoprotein types, which in turn affect the amount of cholesterol available in the gall bladder. The genetic polymorphisms in various genes for apo E, apo B, apo A1, LDL receptor, cholesteryl ester transfer and LDL receptor-associated protein have been implicated in gallstone formation. However, presently available information on genetic differences is not able to account for a large number of gallstone patients. The molecular studies in the animal models have not only confirmed the present paradigm of gallstone formation but also helped in identification of novel genes in humans, which might play an important role in pathogenesis of the disease. Precise understanding of such genes and their molecular mechanisms may provide the basis of new targets for rational drug designs and dietary interventions.

  18. Multispecies genetic objectives in spatial conservation planning.

    Science.gov (United States)

    Nielsen, Erica S; Beger, Maria; Henriques, Romina; Selkoe, Kimberly A; von der Heyden, Sophie

    2017-08-01

    Growing threats to biodiversity and global alteration of habitats and species distributions make it increasingly necessary to consider evolutionary patterns in conservation decision making. Yet, there is no clear-cut guidance on how genetic features can be incorporated into conservation-planning processes, despite multiple molecular markers and several genetic metrics for each marker type to choose from. Genetic patterns differ between species, but the potential tradeoffs among genetic objectives for multiple species in conservation planning are currently understudied. We compared spatial conservation prioritizations derived from 2 metrics of genetic diversity (nucleotide and haplotype diversity) and 2 metrics of genetic isolation (private haplotypes and local genetic differentiation) in mitochondrial DNA of 5 marine species. We compared outcomes of conservation plans based only on habitat representation with plans based on genetic data and habitat representation. Fewer priority areas were selected for conservation plans based solely on habitat representation than on plans that included habitat and genetic data. All 4 genetic metrics selected approximately similar conservation-priority areas, which is likely a result of prioritizing genetic patterns across a genetically diverse array of species. Largely, our results suggest that multispecies genetic conservation objectives are vital to creating protected-area networks that appropriately preserve community-level evolutionary patterns. © 2016 Society for Conservation Biology.

  19. Refining and defining riverscape genetics: How rivers influence population genetic structure

    Science.gov (United States)

    Chanté D. Davis; Clinton W. Epps; Rebecca L. Flitcroft; Michael A. Banks

    2018-01-01

    Traditional analysis in population genetics evaluates differences among groups of individuals and, in some cases, considers the effects of distance or potential barriers to gene flow. Genetic variation of organisms in complex landscapes, seascapes, or riverine systems, however, may be shaped by many forces. Recent research has linked habitat heterogeneity and landscape...

  20. Genetic Counseling in Mental Retardation.

    Science.gov (United States)

    Bowen, Peter

    The task of the genetic counselor who identifies genetic causes of mental retardation and assists families to understand risk of recurrence is described. Considered are chromosomal genetic disorders such as Down's syndrome, inherited disorders such as Tay-Sachs disease, identification by testing the amniotic fluid cells (amniocentresis) in time…

  1. Statistical methods in spatial genetics

    DEFF Research Database (Denmark)

    Guillot, Gilles; Leblois, Raphael; Coulon, Aurelie

    2009-01-01

    The joint analysis of spatial and genetic data is rapidly becoming the norm in population genetics. More and more studies explicitly describe and quantify the spatial organization of genetic variation and try to relate it to underlying ecological processes. As it has become increasingly difficult...... to keep abreast with the latest methodological developments, we review the statistical toolbox available to analyse population genetic data in a spatially explicit framework. We mostly focus on statistical concepts but also discuss practical aspects of the analytical methods, highlighting not only...

  2. Desktop Genetics.

    Science.gov (United States)

    Hough, Soren H; Ajetunmobi, Ayokunmi; Brody, Leigh; Humphryes-Kirilov, Neil; Perello, Edward

    2016-11-01

    Desktop Genetics is a bioinformatics company building a gene-editing platform for personalized medicine. The company works with scientists around the world to design and execute state-of-the-art clustered regularly interspaced short palindromic repeats (CRISPR) experiments. Desktop Genetics feeds the lessons learned about experimental intent, single-guide RNA design and data from international genomics projects into a novel CRISPR artificial intelligence system. We believe that machine learning techniques can transform this information into a cognitive therapeutic development tool that will revolutionize medicine.

  3. Genetics & sport: bioethical concerns.

    Science.gov (United States)

    Miah, Andy

    2012-12-01

    This paper provides an overview of the ethical issues pertaining to the use of genetic insights and techniques in sport. Initially, it considers a range of scientific findings that have stimulated debate about the ethical issues associated with genetics applied to sport. It also outlines some of the early policy responses to these discoveries from world leading sports organizations, along with knowledge about actual use of gene technologies in sport. Subsequently, it considers the challenges with distinguishing between therapeutic use and human enhancement within genetic science, which is a particularly important issue for the world of sport. Next, particular attention is given to the use of genetic information, which raises questions about the legitimacy and reliability of genetic tests, along with the potential public value of having DNA databanks to economize in health care. Finally, the ethics of gene transfer are considered, inviting questions into the values of sport and humanity. It argues that, while gene modification may seem conceptually similar to other forms of doping, the requirements upon athletes are such that new forms of enhancement become increasingly necessary to discover. Insofar as genetic science is able to create safer, more effective techniques of human modification, then it may be an appealing route through which to modify athletes to safeguard the future of elite sports as enterprises of human excellence.

  4. Comparative riverscape genetics reveals reservoirs of genetic diversity for conservation and restoration of Great Plains fishes.

    Science.gov (United States)

    Osborne, Megan J; Perkin, Joshuah S; Gido, Keith B; Turner, Thomas F

    2014-12-01

    We used comparative landscape genetics to examine the relative roles of historical events, intrinsic traits and landscape factors in determining the distribution of genetic diversity of river fishes across the North American Great Plains. Spatial patterns of diversity were overlaid on a patch-based graphical model and then compared within and among three species that co-occurred across five Great Plains watersheds. Species differing in reproductive strategy (benthic vs. pelagic-spawning) were hypothesized to have different patterns of genetic diversity, but the overriding factor shaping contemporary patterns of diversity was the signature of past climates and geological history. Allelic diversity was significantly higher at southern latitudes for Cyprinella lutrensis and Hybognathus placitus, consistent with northward expansion from southern Pleistocene refugia. Within the historical context, all species exhibited lowered occupancy and abundance in heavily fragmented and drier upstream reaches, particularly H. placitus; a pelagic-spawning species, suggesting rates of extirpation have outpaced losses of genetic diversity in this species. Within most tributary basins, genetically diverse populations of each species persisted. Hence, reconnecting genetically diverse populations with those characterized by reduced diversity (regardless of their position within the riverine network) would provide populations with greater genetic and demographic resilience. We discuss cases where cross-basin transfer may be appropriate to enhance genetic diversity and mitigate negative effects of climate change. Overall, striking similarities in genetic patterns and in response to fragmentation and dewatering suggest a common strategy for genetic resource management in this unique riverine fish assemblage. © 2014 John Wiley & Sons Ltd.

  5. SIFamide peptides in clawed lobsters and freshwater crayfish (Crustacea, Decapoda, Astacidea): a combined molecular, mass spectrometric and electrophysiological investigation.

    Science.gov (United States)

    Dickinson, Patsy S; Stemmler, Elizabeth A; Cashman, Christopher R; Brennan, Henry R; Dennison, Bobbi; Huber, Kristen E; Peguero, Braulio; Rabacal, Whitney; Goiney, Christopher C; Smith, Christine M; Towle, David W; Christie, Andrew E

    2008-04-01

    Recently, we identified the peptide VYRKPPFNGSIFamide (Val(1)-SIFamide) in the stomatogastric nervous system (STNS) of the American lobster Homarus americanus using matrix-assisted laser desorption/ionization-Fourier transform mass spectrometry (MALDI-FTMS). Given that H. americanus is the only species thus far shown to possess this peptide, and that a second SIFamide isoform, Gly(1)-SIFamide, is broadly conserved in other decapods, including another astacidean, the crayfish Procambarus clarkii, we became interested both in confirming our identification of Val(1)-SIFamide via molecular methods and in determining the extent to which this isoform is conserved within other members of the infraorder Astacidea. Here, we present the identification and characterization of an H. americanus prepro-SIFamide cDNA that encodes the Val(1) isoform. Moreover, we demonstrate via MALDI-FTMS the presence of Val(1)-SIFamide in a second Homarus species, Homarus gammarus. In contrast, only the Gly(1) isoform was detected in the other astacideans investigated, including the lobster Nephrops norvegicus, a member of the same family as Homarus, and the crayfish Cherax quadricarinatus, P. clarkii and Pacifastacus leniusculus, which represent members of each of the extant families of freshwater astacideans. These results suggest that Val(1)-SIFamide may be a genus (Homarus)-specific isoform. Interestingly, both Val(1)- and Gly(1)-SIFamide possess an internal dibasic site, Arg(3)-Lys(4), raising the possibility of the ubiquitously conserved isoform PPFNGSIFamide. However, this octapeptide was not detected via MALDI-FTMS in any of the investigated species, and when applied to the isolated STNS of H. americanus possessed little bioactivity relative to the full-length Val(1) isoform. Thus, it appears that the dodeca-variants Val(1)- and Gly(1)-SIFamide are the sole bioactive isoforms of this peptide family in clawed lobsters and freshwater crayfish.

  6. Nonmotor symptoms in genetic Parkinson disease

    DEFF Research Database (Denmark)

    Kasten, Meike; Kertelge, Lena; Brüggemann, Norbert

    2010-01-01

    To review current knowledge on nonmotor symptoms (NMS), particularly psychiatric features, in genetic Parkinson disease (PD) and to provide original data for genetic and idiopathic PD.......To review current knowledge on nonmotor symptoms (NMS), particularly psychiatric features, in genetic Parkinson disease (PD) and to provide original data for genetic and idiopathic PD....

  7. Analysis of myofibrillar proteins and transcripts in adult skeletal muscles of the American lobster Homarus americanus: variable expression of myosins, actin and troponins in fast, slow-twitch and slow-tonic fibres.

    Science.gov (United States)

    Medler, Scott; Mykles, Donald L

    2003-10-01

    Skeletal muscles are diverse in their contractile properties, with many of these differences being directly related to the assemblages of myofibrillar isoforms characteristic of different fibers. Crustacean muscles are similar to other muscles in this respect, although the majority of information about differences in muscle organization comes from vertebrate species. In the present study, we examined the correlation between myofibrillar protein isoforms and the patterns of myofibrillar gene expression in fast, slow-phasic (S(1)) and slow-tonic (S(2)) fibers of the American lobster Homarus americanus. SDS-PAGE and western blotting were used to identify isoform assemblages of myosin heavy chain (MHC), P75, troponin T (TnT) and troponin I (TnI). RT-PCR was used to monitor expression of fast and slow (S(1)) MHC, P75 and actin in different fiber types, and the MHC and actin levels were quantified by real-time PCR. Fast and slow fibers from the claw closers predominantly expressed fast and S(1) MHC, respectively, but also lower levels of the alternate MHC. By contrast, fast fibers from the deep abdominal muscle expressed fast MHC exclusively. In addition, slow muscles expressed significantly higher levels of actin than fast fibers. A distal bundle of fibers in the cutter claw closer muscle was found to be composed of a mixture of S(1) and S(2) fibers, many of which possessed a mixture of S(1) and S(2) MHC isoforms. This pattern supports the idea that S(1) and S(2) fibers represent extremes in a continuum of slow muscle phenotype. Overall, these patterns demonstrate that crustacean skeletal muscles cannot be strictly categorized into discrete fiber types, but a muscle's properties probably represent a point on a continuum of fiber types. This trend may result from differences in innervation pattern, as each muscle is controlled by a unique combination of phasic, tonic or both phasic and tonic motor nerves. In this respect, future studies examining how muscle phenotype

  8. Genetic parameters and genetic and phenotypic trends of performance traits of equines from the Brazilian Army

    Directory of Open Access Journals (Sweden)

    Mariana de Almeida Dornelles

    2012-06-01

    Full Text Available The objective of this research was to compare the magnitude of genetic parameters (coefficients of heritability and genetic correlation as estimated by the Restricted Maximum Likelihood (REML method and Bayesian Inference, and to estimate the genetic and phenotypic trends to the traits height at the withers (HW24 and weight at 24 months of age (W24. The average heritability estimated by Bayesian Inference to HW24 was 0.47, and it was lower than that obtained by REML bi-trait analysis (0.52; however, the value estimated to W24 (0.39 was higher than that obtained by REML bi-trait analysis (0.38. The genetic correlation estimate between W24 and HW24 traits obtained by the REML method (0.66 was lower than that obtained by the Bayesian Inference Method (0.72. From the regression of the average additive genetic merit in the year of birth of the animals, it was found that the averaged genetic values of the animals for HW24 showed a genetic trend near zero (-0.0008cm/year, and the averaged genetic values for W24 showed a negative trend of -0.38 kg/year. The values to the direct heritability estimated for HW24 and W24 suggest that the direct selection for these traits can provide genetic gain in this population. The genetic correlation between the traits, high and positive, suggests that the selection for HW24 should promote increase in W24 at this age. The genetic trends obtained for the traits studied, near zero, indicate that the selection performed produced a slight reduction of the weight of the animals at 24 months of age; however, it did not promote increase in height at the wither at this same age, in this population.

  9. Genetics in Relation to Biology.

    Science.gov (United States)

    Stewart, J. Bird

    1987-01-01

    Claims that most instruction dealing with genetics is limited to sex education and personal hygiene. Suggests that the biology curriculum should begin to deal with other issues related to genetics, including genetic normality, prenatal diagnoses, race, and intelligence. Predicts these topics will begin to appear in British examination programs.…

  10. Genetics of bipolar disorder

    Directory of Open Access Journals (Sweden)

    Kerner B

    2014-02-01

    Full Text Available Berit Kerner Semel Institute for Neuroscience and Human Behavior, University of California, Los Angeles, Los Angeles, CA, USA Abstract: Bipolar disorder is a common, complex genetic disorder, but the mode of transmission remains to be discovered. Many researchers assume that common genomic variants carry some risk for manifesting the disease. The research community has celebrated the first genome-wide significant associations between common single nucleotide polymorphisms (SNPs and bipolar disorder. Currently, attempts are under way to translate these findings into clinical practice, genetic counseling, and predictive testing. However, some experts remain cautious. After all, common variants explain only a very small percentage of the genetic risk, and functional consequences of the discovered SNPs are inconclusive. Furthermore, the associated SNPs are not disease specific, and the majority of individuals with a “risk” allele are healthy. On the other hand, population-based genome-wide studies in psychiatric disorders have rediscovered rare structural variants and mutations in genes, which were previously known to cause genetic syndromes and monogenic Mendelian disorders. In many Mendelian syndromes, psychiatric symptoms are prevalent. Although these conditions do not fit the classic description of any specific psychiatric disorder, they often show nonspecific psychiatric symptoms that cross diagnostic boundaries, including intellectual disability, behavioral abnormalities, mood disorders, anxiety disorders, attention deficit, impulse control deficit, and psychosis. Although testing for chromosomal disorders and monogenic Mendelian disorders is well established, testing for common variants is still controversial. The standard concept of genetic testing includes at least three broad criteria that need to be fulfilled before new genetic tests should be introduced: analytical validity, clinical validity, and clinical utility. These criteria are

  11. Genetic Testing for ALS

    Science.gov (United States)

    ... genetic counselor can help you work through the pros and cons of genetic testing based on your ... showing symptoms or what their progression will be. Technology is changing rapidly and costs of testing are ...

  12. Genetics Home Reference: osteopetrosis

    Science.gov (United States)

    ... A characteristic of X-linked inheritance is that fathers cannot pass X-linked traits to their sons. ... infantile neuroaxonal dystrophy Genetic Testing Registry: Osteopetrosis autosomal dominant type 1 Genetic Testing Registry: Osteopetrosis autosomal dominant ...

  13. Genetics Home Reference: SADDAN

    Science.gov (United States)

    ... view the expand/collapse boxes. Description SADDAN (severe achondroplasia with developmental delay and acanthosis nigricans) is a ... Genetic Testing (1 link) Genetic Testing Registry: Severe achondroplasia with developmental delay and acanthosis nigricans Other Diagnosis ...

  14. Behavior genetic modeling of human fertility

    DEFF Research Database (Denmark)

    Rodgers, J L; Kohler, H P; Kyvik, K O

    2001-01-01

    Behavior genetic designs and analysis can be used to address issues of central importance to demography. We use this methodology to document genetic influence on human fertility. Our data come from Danish twin pairs born from 1953 to 1959, measured on age at first attempt to get pregnant (First......Try) and number of children (NumCh). Behavior genetic models were fitted using structural equation modeling and DF analysis. A consistent medium-level additive genetic influence was found for NumCh, equal across genders; a stronger genetic influence was identified for FirstTry, greater for females than for males....... A bivariate analysis indicated significant shared genetic variance between NumCh and FirstTry....

  15. Genetic variation in California oaks

    Science.gov (United States)

    Constance I. Millar; Diane L. Delany; Lawrence A. Riggs

    1990-01-01

    In forestry the importance of genetic variation for successful reproduction, survival and growth has been widely documented for commercial conifers; until recently, little genetic work has been done on the California oaks. Even before the nature of genetic variation was scientifically investigated, its importance was suspected in operational forestry. Many failures of...

  16. Genetics Home Reference: homocystinuria

    Science.gov (United States)

    ... an increased risk of abnormal blood clotting, and brittle bones that are prone to fracture ( osteoporosis ) or other ... information about a genetic condition can statistics provide? Why are some genetic conditions more common in particular ...

  17. Genetic View To Stroke Occurrence

    Directory of Open Access Journals (Sweden)

    Sadegh Yoosefee

    2017-02-01

    Full Text Available Stroke is the third leading cause of death. The role of genetics in the etiology and development of this disease is undeniable. As a result of inadequate previous research, more and more studies in the field of genetics are necessary to identify pathways involved in the pathogenesis of stroke, which in turn, may lead to new therapeutic approaches. However, due to the multifactorial nature of stroke and the few studies conducted in this field, genetic diversity is able to predict only a small fraction of the risk of disease. On the other hand, studies have shown genetically different architecture for different types of stroke, and finally pharmacogenomics as an important part of personalized medicine approach, is influenced by genetic studies, all of which confirm the need of addressing the topic by researchers.

  18. Genetics Home Reference: isolated growth hormone deficiency

    Science.gov (United States)

    ... can be inherited? More about Inheriting Genetic Conditions Diagnosis & Management Resources Genetic Testing (4 links) Genetic Testing Registry: Ateleiotic dwarfism Genetic Testing Registry: Autosomal dominant isolated somatotropin deficiency ...

  19. Crystal Genetics, Inc.

    Science.gov (United States)

    Kermani, Bahram G

    2016-07-01

    Crystal Genetics, Inc. is an early-stage genetic test company, focused on achieving the highest possible clinical-grade accuracy and comprehensiveness for detecting germline (e.g., in hereditary cancer) and somatic (e.g., in early cancer detection) mutations. Crystal's mission is to significantly improve the health status of the population, by providing high accuracy, comprehensive, flexible and affordable genetic tests, primarily in cancer. Crystal's philosophy is that when it comes to detecting mutations that are strongly correlated with life-threatening diseases, the detection accuracy of every single mutation counts: a single false-positive error could cause severe anxiety for the patient. And, more importantly, a single false-negative error could potentially cost the patient's life. Crystal's objective is to eliminate both of these error types.

  20. [Genetically modified food--unnecessary controversy?].

    Science.gov (United States)

    Tchórz, Michał; Radoniewicz-Chagowska, Anna; Lewandowska-Stanek, Hanna; Szponar, Elzbieta; Szponar, Jarosław

    2012-01-01

    Fast development of genetic engineering and biotechnology allows use of genetically modified organisms (GMO) more and more in different branches of science and economy. Every year we can see an increase of food amount produced with the use of modification of genetic material. In our supermarkets we can find brand new types of plants, products including genetically modified ingredients or meat from animals fed with food containing GMO. This article presents general information about genetically modified organisms, it also explains the range of genetic manipulation, use of newly developed products and current field area for GMO in the world. Based on scientific data the article presents benefits from development of biotechnology in reference to modified food. It also presents the voice of skeptics who are extremely concerned about the impact of those organisms on human health and natural environment. Problems that appear or can appear as a result of an increase of GMO are very important not only from a toxicologist's or a doctor's point of view but first of all from the point of view of ordinary consumers--all of us.

  1. Facial averageness and genetic quality: Testing heritability, genetic correlation with attractiveness, and the paternal age effect.

    Science.gov (United States)

    Lee, Anthony J; Mitchem, Dorian G; Wright, Margaret J; Martin, Nicholas G; Keller, Matthew C; Zietsch, Brendan P

    2016-01-01

    Popular theory suggests that facial averageness is preferred in a partner for genetic benefits to offspring. However, whether facial averageness is associated with genetic quality is yet to be established. Here, we computed an objective measure of facial averageness for a large sample ( N = 1,823) of identical and nonidentical twins and their siblings to test two predictions from the theory that facial averageness reflects genetic quality. First, we use biometrical modelling to estimate the heritability of facial averageness, which is necessary if it reflects genetic quality. We also test for a genetic association between facial averageness and facial attractiveness. Second, we assess whether paternal age at conception (a proxy of mutation load) is associated with facial averageness and facial attractiveness. Our findings are mixed with respect to our hypotheses. While we found that facial averageness does have a genetic component, and a significant phenotypic correlation exists between facial averageness and attractiveness, we did not find a genetic correlation between facial averageness and attractiveness (therefore, we cannot say that the genes that affect facial averageness also affect facial attractiveness) and paternal age at conception was not negatively associated with facial averageness. These findings support some of the previously untested assumptions of the 'genetic benefits' account of facial averageness, but cast doubt on others.

  2. Developmental cognitive genetics: How psychology can inform genetics and vice versa

    Science.gov (United States)

    Bishop, Dorothy V. M.

    2006-01-01

    Developmental neuropsychology is concerned with uncovering the underlying basis of developmental disorders such as specific language impairment (SLI), developmental dyslexia, and autistic disorder. Twin and family studies indicate that genetic influences play an important part in the aetiology of all of these disorders, yet progress in identifying genes has been slow. One way forward is to cut loose from conventional clinical criteria for diagnosing disorders and to focus instead on measures of underlying cognitive mechanisms. Psychology can inform genetics by clarifying what the key dimensions are for heritable phenotypes. However, it is not a one-way street. By using genetically informative designs, one can gain insights about causal relationships between different cognitive deficits. For instance, it has been suggested that low-level auditory deficits cause phonological problems in SLI. However, a twin study showed that, although both types of deficit occur in SLI, they have quite different origins, with environmental factors more important for auditory deficit, and genes more important for deficient phonological short-term memory. Another study found that morphosyntactic deficits in SLI are also highly heritable, but have different genetic origins from impairments of phonological short-term memory. A genetic perspective shows that a search for the underlying cause of developmental disorders may be misguided, because they are complex and heterogeneous and are associated with multiple risk factors that only cause serious disability when they occur in combination. PMID:16769616

  3. Perceived genetic knowledge, attitudes towards genetic testing, and the relationship between these among patients with a chronic disease

    NARCIS (Netherlands)

    Morren, M.; Rijken, M.; Baanders, A.N.; Bensing, J.

    2007-01-01

    Objective: Genetics increasingly permeate everyday medicine. When patients want to make informed decisions about genetic testing, they require genetic knowledge. This study examined the genetic knowledge and attitudes of patients with chronic diseases, and the relationship between both. In addition,

  4. Perceived genetic knowledge, attitudes toward genetic testing, and the relationship between these among patients with a chronic disease.

    NARCIS (Netherlands)

    Morren, M.; Rijken, M.; Baanders, A.N.; Bensing, J.

    2007-01-01

    OBJECTIVE: Genetics increasingly permeate everyday medicine. When patients want to make informed decisions about genetic testing, they require genetic knowledge. This study examined the genetic knowledge and attitudes of patients with chronic diseases, and the relationship between both. In addition,

  5. Genetic technologies for extremely thermophilic microorganisms of Sulfolobus, the only genetically tractable genus of crenarchaea.

    Science.gov (United States)

    Peng, Nan; Han, Wenyuan; Li, Yingjun; Liang, Yunxiang; She, Qunxin

    2017-04-01

    Archaea represents the third domain of life, with the information-processing machineries more closely resembling those of eukaryotes than the machineries of the bacterial counterparts but sharing metabolic pathways with organisms of Bacteria, the sister prokaryotic phylum. Archaeal organisms also possess unique features as revealed by genomics and genome comparisons and by biochemical characterization of prominent enzymes. Nevertheless, diverse genetic tools are required for in vivo experiments to verify these interesting discoveries. Considerable efforts have been devoted to the development of genetic tools for archaea ever since their discovery, and great progress has been made in the creation of archaeal genetic tools in the past decade. Versatile genetic toolboxes are now available for several archaeal models, among which Sulfolobus microorganisms are the only genus representing Crenarchaeota because all the remaining genera are from Euryarchaeota. Nevertheless, genetic tools developed for Sulfolobus are probably the most versatile among all archaeal models, and these include viral and plasmid shuttle vectors, conventional and novel genetic manipulation methods, CRISPR-based gene deletion and mutagenesis, and gene silencing, among which CRISPR tools have been reported only for Sulfolobus thus far. In this review, we summarize recent developments in all these useful genetic tools and discuss their possible application to research into archaeal biology by means of Sulfolobus models.

  6. Loss of Genetic Diversity of Jatropha curcas L. through Domestication: Implications for Its Genetic Improvement

    DEFF Research Database (Denmark)

    Sanou, Haby; Angel Angulo-Escalante, Miguel; Martinez-Herrera, Jorge

    2015-01-01

    Jatropha curcas L. has been promoted as a “miracle” tree in many parts of the world, but recent studies have indicated very low levels of genetic diversity in various landraces. In this study, the genetic diversity of landrace collections of J. curcas was compared with the genetic diversity...

  7. What Is Direct-to-Consumer Genetic Testing?

    Science.gov (United States)

    ... consumer genetic testing? What kinds of direct-to-consumer genetic tests are available? What is genetic ancestry testing? What are the benefits and risks of direct-to-consumer genetic testing? ...

  8. Theory and Practice in Quantitative Genetics

    DEFF Research Database (Denmark)

    Posthuma, Daniëlle; Beem, A Leo; de Geus, Eco J C

    2003-01-01

    With the rapid advances in molecular biology, the near completion of the human genome, the development of appropriate statistical genetic methods and the availability of the necessary computing power, the identification of quantitative trait loci has now become a realistic prospect for quantitative...... geneticists. We briefly describe the theoretical biometrical foundations underlying quantitative genetics. These theoretical underpinnings are translated into mathematical equations that allow the assessment of the contribution of observed (using DNA samples) and unobserved (using known genetic relationships......) genetic variation to population variance in quantitative traits. Several statistical models for quantitative genetic analyses are described, such as models for the classical twin design, multivariate and longitudinal genetic analyses, extended twin analyses, and linkage and association analyses. For each...

  9. Genetic Science Learning Center

    Science.gov (United States)

    Genetic Science Learning Center Making science and health easy for everyone to understand Home News Our Team What We Do ... Collaboration Conferences Current Projects Publications Contact The Genetic Science Learning Center at The University of Utah is a ...

  10. Integrated genetic analysis microsystems

    International Nuclear Information System (INIS)

    Lagally, Eric T; Mathies, Richard A

    2004-01-01

    With the completion of the Human Genome Project and the ongoing DNA sequencing of the genomes of other animals, bacteria, plants and others, a wealth of new information about the genetic composition of organisms has become available. However, as the demand for sequence information grows, so does the workload required both to generate this sequence and to use it for targeted genetic analysis. Microfabricated genetic analysis systems are well poised to assist in the collection and use of these data through increased analysis speed, lower analysis cost and higher parallelism leading to increased assay throughput. In addition, such integrated microsystems may point the way to targeted genetic experiments on single cells and in other areas that are otherwise very difficult. Concomitant with these advantages, such systems, when fully integrated, should be capable of forming portable systems for high-speed in situ analyses, enabling a new standard in disciplines such as clinical chemistry, forensics, biowarfare detection and epidemiology. This review will discuss the various technologies available for genetic analysis on the microscale, and efforts to integrate them to form fully functional robust analysis devices. (topical review)

  11. [The genetics of addictions].

    Science.gov (United States)

    Ibañez Cuadrado, Angela

    2008-01-01

    The addictions are common chronic psychiatric diseases which represent a serious worldwide public-health problem. They have a high prevalence and negative effects at individual, family and societal level, with a high sanitary cost. Epidemiological genetic research has revealed that addictions are moderately to highly heritable. Also the investigation has evidenced that environmental and genetic factors contribute to individual differences in vulnerability to addictions. Advances in the neurobiology of addiction joined to the development of new molecular genetic technologies, have led to the identification of a variety of underlying genes and pathways in addiction process, leading to the description of common molecular mechanisms in substance and behaviour dependencies. Identifying gene-environment interactions is a crucial issue in future research. Other major goal in genetic research is the identification of new therapeutic targets for treatment and prevention.

  12. Genetic effects of radiation

    International Nuclear Information System (INIS)

    Selby, P.B.

    1977-01-01

    Many of the most important findings concerning the genetic effects of radiation have been obtained in the Biology Division of Oak Ridge National Laboratory. The paper focuses on some of the major discoveries made in the Biology Division and on a new method of research that assesses damage to the skeletons of mice whose fathers were irradiated. The results discussed have considerable influence upon estimates of genetic risk in humans from radiation, and an attempt is made to put the estimated amount of genetic damage caused by projected nuclear power development into its proper perspective

  13. Quantitative genetics of disease traits.

    Science.gov (United States)

    Wray, N R; Visscher, P M

    2015-04-01

    John James authored two key papers on the theory of risk to relatives for binary disease traits and the relationship between parameters on the observed binary scale and an unobserved scale of liability (James Annals of Human Genetics, 1971; 35: 47; Reich, James and Morris Annals of Human Genetics, 1972; 36: 163). These two papers are John James' most cited papers (198 and 328 citations, November 2014). They have been influential in human genetics and have recently gained renewed popularity because of their relevance to the estimation of quantitative genetics parameters for disease traits using SNP data. In this review, we summarize the two early papers and put them into context. We show recent extensions of the theory for ascertained case-control data and review recent applications in human genetics. © 2015 Blackwell Verlag GmbH.

  14. Future possibilities in migraine genetics

    DEFF Research Database (Denmark)

    Rudkjøbing, Laura Aviaja; Esserlind, Ann-Louise; Olesen, Jes

    2012-01-01

    Migraine with and without aura (MA and MO, respectively) have a strong genetic basis. Different approaches using linkage-, candidate gene- and genome-wide association studies have been explored, yielding limited results. This may indicate that the genetic component in migraine is due to rare...... variants; capturing these will require more detailed sequencing in order to be discovered. Next-generation sequencing (NGS) techniques such as whole exome and whole genome sequencing have been successful in finding genes in especially monogenic disorders. As the molecular genetics research progresses......, the technology will follow, rendering these approaches more applicable in the search for causative migraine genes in MO and MA. To date, no studies using NGS in migraine genetics have been published. In order to gain insight into the future possibilities of migraine genetics, we have looked at NGS studies...

  15. Scientific discovery using genetic programming

    DEFF Research Database (Denmark)

    Keijzer, Maarten

    2001-01-01

    programming paradigm. The induction of mathematical expressions based on data is called symbolic regression. In this work, genetic programming is extended to not just fit the data i.e., get the numbers right, but also to get the dimensions right. For this units of measurement are used. The main contribution......Genetic Programming is capable of automatically inducing symbolic computer programs on the basis of a set of examples or their performance in a simulation. Mathematical expressions are a well-defined subset of symbolic computer programs and are also suitable for optimization using the genetic...... in this work can be summarized as: The symbolic expressions produced by genetic programming can be made suitable for analysis and interpretation by using units of measurements to guide or restrict the search. To achieve this, the following has been accomplished: A standard genetic programming system...

  16. Evolution of Genetic Variance during Adaptive Radiation.

    Science.gov (United States)

    Walter, Greg M; Aguirre, J David; Blows, Mark W; Ortiz-Barrientos, Daniel

    2018-04-01

    Genetic correlations between traits can concentrate genetic variance into fewer phenotypic dimensions that can bias evolutionary trajectories along the axis of greatest genetic variance and away from optimal phenotypes, constraining the rate of evolution. If genetic correlations limit adaptation, rapid adaptive divergence between multiple contrasting environments may be difficult. However, if natural selection increases the frequency of rare alleles after colonization of new environments, an increase in genetic variance in the direction of selection can accelerate adaptive divergence. Here, we explored adaptive divergence of an Australian native wildflower by examining the alignment between divergence in phenotype mean and divergence in genetic variance among four contrasting ecotypes. We found divergence in mean multivariate phenotype along two major axes represented by different combinations of plant architecture and leaf traits. Ecotypes also showed divergence in the level of genetic variance in individual traits and the multivariate distribution of genetic variance among traits. Divergence in multivariate phenotypic mean aligned with divergence in genetic variance, with much of the divergence in phenotype among ecotypes associated with changes in trait combinations containing substantial levels of genetic variance. Overall, our results suggest that natural selection can alter the distribution of genetic variance underlying phenotypic traits, increasing the amount of genetic variance in the direction of natural selection and potentially facilitating rapid adaptive divergence during an adaptive radiation.

  17. Causal Genetic Variation Underlying Metabolome Differences.

    Science.gov (United States)

    Swain-Lenz, Devjanee; Nikolskiy, Igor; Cheng, Jiye; Sudarsanam, Priya; Nayler, Darcy; Staller, Max V; Cohen, Barak A

    2017-08-01

    An ongoing challenge in biology is to predict the phenotypes of individuals from their genotypes. Genetic variants that cause disease often change an individual's total metabolite profile, or metabolome. In light of our extensive knowledge of metabolic pathways, genetic variants that alter the metabolome may help predict novel phenotypes. To link genetic variants to changes in the metabolome, we studied natural variation in the yeast Saccharomyces cerevisiae We used an untargeted mass spectrometry method to identify dozens of metabolite Quantitative Trait Loci (mQTL), genomic regions containing genetic variation that control differences in metabolite levels between individuals. We mapped differences in urea cycle metabolites to genetic variation in specific genes known to regulate amino acid biosynthesis. Our functional assays reveal that genetic variation in two genes, AUA1 and ARG81 , cause the differences in the abundance of several urea cycle metabolites. Based on knowledge of the urea cycle, we predicted and then validated a new phenotype: sensitivity to a particular class of amino acid isomers. Our results are a proof-of-concept that untargeted mass spectrometry can reveal links between natural genetic variants and metabolome diversity. The interpretability of our results demonstrates the promise of using genetic variants underlying natural differences in the metabolome to predict novel phenotypes from genotype. Copyright © 2017 by the Genetics Society of America.

  18. Conservation genetics of managed ungulate populations

    Science.gov (United States)

    Scribner, Kim T.

    1993-01-01

    Natural populations of many species are increasingly impacted by human activities. Perturbations are particularly pronunced for large ungulates due in part to sport and commercial harvest, to reductions and fragmentation of native habitat, and as the result of reintroductions. These perturbations affect population size, sex and age composition, and population breeding structure, and as a consequence affect the levels and partitioning of genetic variation. Three case histories highlighting long-term ecological genetic research on mule deer Odocoileus hemionus (Rafinesque, 1817), white-tailed deer O. virginianus (Zimmermann, 1780), and Alpine ibex Capra i. ibex Linnaeus, 1758 are presented. Joint examinations of population ecological and genetic data from several populations of each species reveal: (1) that populations are not in genetic equilibrium, but that allele frequencies and heterozygosity change dramatically over time and among cohorts produced in successive years, (2) populations are genetically structured over short and large geographic distances reflecting local breeding structure and patterns of gene flow, respectively; however, this structure is quite dynamic over time, due in part to population exploitation, and (3) restocking programs are often undertaken with small numbers of founding individuals resulting in dramatic declines in levels of genetic variability and increasing levels of genetic differentiation among populations due to genetic drift. Genetic characteristics have and will continue to provide valuable indirect sources of information relating enviromental and human perturbations to changes in population processes.

  19. Genetic effects of ionising radiation in man

    International Nuclear Information System (INIS)

    Sankaranarayanan, K.

    1991-01-01

    A review is given of genetic risk estimation in man. Topics covered include the methods used, the germ cell stages and radiation conditions relevant for genetic risk estimation, doubling dose estimates, the classification and prevalence of naturally-occurring genetic disorders, the source of data used in the direct method of risk estimation, the genetic risk estimates from the mid-1970s to the present, the estimates of genetic risk used in ICRP 26 in 1977 and ICRP's current assessment of genetic risks. (UK)

  20. Genetic Characterization of Dog Personality Traits.

    Science.gov (United States)

    Ilska, Joanna; Haskell, Marie J; Blott, Sarah C; Sánchez-Molano, Enrique; Polgar, Zita; Lofgren, Sarah E; Clements, Dylan N; Wiener, Pamela

    2017-06-01

    The genetic architecture of behavioral traits in dogs is of great interest to owners, breeders, and professionals involved in animal welfare, as well as to scientists studying the genetics of animal (including human) behavior. The genetic component of dog behavior is supported by between-breed differences and some evidence of within-breed variation. However, it is a challenge to gather sufficiently large datasets to dissect the genetic basis of complex traits such as behavior, which are both time-consuming and logistically difficult to measure, and known to be influenced by nongenetic factors. In this study, we exploited the knowledge that owners have of their dogs to generate a large dataset of personality traits in Labrador Retrievers. While accounting for key environmental factors, we demonstrate that genetic variance can be detected for dog personality traits assessed using questionnaire data. We identified substantial genetic variance for several traits, including fetching tendency and fear of loud noises, while other traits revealed negligibly small heritabilities. Genetic correlations were also estimated between traits; however, due to fairly large SEs, only a handful of trait pairs yielded statistically significant estimates. Genomic analyses indicated that these traits are mainly polygenic, such that individual genomic regions have small effects, and suggested chromosomal associations for six of the traits. The polygenic nature of these traits is consistent with previous behavioral genetics studies in other species, for example in mouse, and confirms that large datasets are required to quantify the genetic variance and to identify the individual genes that influence behavioral traits. Copyright © 2017 by the Genetics Society of America.

  1. Engaging nurses in genetics: the strategic approach of the NHS National Genetics Education and Development Centre.

    Science.gov (United States)

    Kirk, Maggie; Tonkin, Emma; Burke, Sarah

    2008-04-01

    The UK government announced the establishment of an NHS National Genetics Education and Development Centre in its Genetics White Paper. The Centre aims to lead and coordinate developments to enhance genetics literacy of health professionals. The nursing program takes a strategic approach based on Ajzen's Theory of Planned Behavior, using the UK nursing genetics competences as the platform for development. The program team uses innovative approaches to raise awareness of the relevance of genetics, working collaboratively with policy stakeholders, as key agents of change in promoting competence. Providing practical help in preparing learning and teaching resources lends further encouragement. Evaluation of the program is dependent on gathering baseline data, and the program has been informed by an education needs analysis. The challenges faced are substantial and necessitate international collaboration where expertise and resources can be shared to produce a global system of influence to facilitate the engagement of non-genetic nurses.

  2. Genetic effects of ionising radiation

    International Nuclear Information System (INIS)

    Saunders, P.

    1981-01-01

    The mutagenic effects of ionising radiation on germ cells with resulting genetic abnormalities in subsequent generations, are considered. Having examined a simple model to explain the interaction of ionising radiation with genetic material and discussed its limitations, the methods whereby mutations are transmitted are discussed. Methods of estimating genetic risks and the results of such studies are examined. (U.K.)

  3. Sardinian Population (Italy): a Genetic Review

    African Journals Online (AJOL)

    thou

    , according to the classification suggested by Contini (1979). The genetic ... and to have maintained a genetic identity through their evolution: the cluster constituted ...... HLA class II haplotypes reveals that the Sardinian population is genetically.

  4. Genetics Home Reference: Meesmann corneal dystrophy

    Science.gov (United States)

    ... was first described in a large, multi-generational German family with more than 100 affected members. Since ... be inherited? More about Inheriting Genetic Conditions Diagnosis & Management Resources Genetic Testing (1 link) Genetic Testing Registry: ...

  5. Nurses' knowledge and educational needs regarding genetics.

    Science.gov (United States)

    Seven, Memnun; Akyüz, Aygül; Elbüken, Burcu; Skirton, Heather; Öztürk, Hatice

    2015-03-01

    Nurses now require a basic knowledge of genetics to provide patient care in a range of settings. To determine Turkish registered nurses' current knowledge and educational needs in relation to genetics. A descriptive, cross-sectional study. Turkish registered nurses working in a university hospital in Turkey were recruited. All registered nurses were invited to participate and 175 completed the study. The survey instrument, basic knowledge of health genetics, confidence in knowledge and the nurses' need for genetics education were used to collect data. The majority (81.1%, n=142) of participants indicated that genetics was not taught during their degree program, although 53.1% to 96% of respondents felt confident in defining different genetic concepts. The average genetics knowledge score was 6.89±1.99 of a possible 11 (range 0-11). The majority (70.3%) expressed a strong wish to attend a continuing nursing education program in genetics. The study shows that although Turkish nurses are not sufficiently knowledgeable to apply genetics in practice, they are willing to have more education to support their care of patients. Nurses need to have more education related to genetics in accordance with advances in human genetics to optimize health care. Copyright © 2014 Elsevier Ltd. All rights reserved.

  6. New perspectives on preimplantation genetic diagnosis and preimplantation genetic screening

    Directory of Open Access Journals (Sweden)

    Chun-Kai Chen

    2014-06-01

    Full Text Available Preimplantation genetic diagnosis is a procedure that involves the removal of one or more nuclei from oocytes (a polar body or embryos (blastomeres or trophectoderm cells in order to test for problems in genome sequence or chromosomes of the embryo prior to implantation. It provides new hope of having unaffected children, as well as avoiding the necessity of terminating an affected pregnancy for genetic parents who carry an affected gene or have balanced chromosomal status. Polymerase chain reaction-based molecular techniques are the methods used to detect gene defects with a known sequence and X-linked diseases. The indication for using this approach has expanded for couples who are prevented from having babies because they carry a serious genetic disorder to couples with conditions that are not immediately life threatening, such as cancer predisposition genes and Huntington disease. In addition, fluorescent in situ hybridization (FISH has been widely applied for the detection of chromosome abnormalities. FISH allows the evaluation of many chromosomes at the same time, up to 15 chromosome pairs in a single cell. Preimplantation genetic screening, defined as a test that screens for aneuploidy, has been most commonly used in situations of advanced maternal age, a history of recurrent miscarriage, a history of repeated implantation failure, or a severe male factor. Unfortunately, randomized controlled trials have as yet shown no benefit with respect to preimplantation genetic screening using cleavage stage biopsy, which is probably attributable to the high levels of mosaicism at early cleavage stages and the limitations of FISH. Recently, two main types of array-based technology combined with whole genome amplification have been developed for use in preimplantation genetic diagnosis; these are comparative genomic hybridization and single nucleotide polymorphism-based arrays. Both allow the analysis of all chromosomes, and the latter also allows

  7. BPA genetic monitoring - BPA Genetic Monitoring Project

    Data.gov (United States)

    National Oceanic and Atmospheric Administration, Department of Commerce — Initiated in 1989, this study monitors genetic changes associated with hatchery propagation in multiple Snake River sub-basins for Chinook salmon and steelhead. We...

  8. Teaching Genetic Counseling Skills: Incorporating a Genetic Counseling Adaptation Continuum Model to Address Psychosocial Complexity.

    Science.gov (United States)

    Shugar, Andrea

    2017-04-01

    Genetic counselors are trained health care professionals who effectively integrate both psychosocial counseling and information-giving into their practice. Preparing genetic counseling students for clinical practice is a challenging task, particularly when helping them develop effective and active counseling skills. Resistance to incorporating these skills may stem from decreased confidence, fear of causing harm or a lack of clarity of psycho-social goals. The author reflects on the personal challenges experienced in teaching genetic counselling students to work with psychological and social complexity, and proposes a Genetic Counseling Adaptation Continuum model and methodology to guide students in the use of advanced counseling skills.

  9. Understanding of research, genetics and genetic research in a rapid ethical assessment in north west Cameroon.

    Science.gov (United States)

    Kengne-Ouafo, Jonas A; Millard, James D; Nji, Theobald M; Tantoh, William F; Nyoh, Doris N; Tendongfor, Nicholas; Enyong, Peter A; Newport, Melanie J; Davey, Gail; Wanji, Samuel

    2016-05-01

    There is limited assessment of whether research participants in low-income settings are afforded a full understanding of the meaning of medical research. There may also be particular issues with the understanding of genetic research. We used a rapid ethical assessment methodology to explore perceptions surrounding the meaning of research, genetics and genetic research in north west Cameroon. Eleven focus group discussions (including 107 adults) and 72 in-depth interviews were conducted with various stakeholders in two health districts in north west Cameroon between February and April 2012. Most participants appreciated the role of research in generating knowledge and identified a difference between research and healthcare but gave varied explanations as to this difference. Most participants' understanding of genetics was limited to concepts of hereditary, with potential benefits limited to the level of the individual or family. Explanations based on supernatural beliefs were identified as a special issue but participants tended not to identify any other special risks with genetic research. We demonstrated a variable level of understanding of research, genetics and genetic research, with implications for those carrying out genetic research in this and other low resource settings. Our study highlights the utility of rapid ethical assessment prior to complex or sensitive research. © The Author 2015. Published by Oxford University Press on behalf of Royal Society of Tropical Medicine and Hygiene.

  10. The Double Helix: Applying an Ethic of Care to the Duty to Warn Genetic Relatives of Genetic Information.

    Science.gov (United States)

    Weaver, Meaghann

    2016-03-01

    Genetic testing reveals information about a patient's health status and predictions about the patient's future wellness, while also potentially disclosing health information relevant to other family members. With the increasing availability and affordability of genetic testing and the integration of genetics into mainstream medicine, the importance of clarifying the scope of confidentiality and the rules regarding disclosure of genetic findings to genetic relatives is prime. The United Nations International Declaration on Human Genetic Data urges an appreciation for principles of equality, justice, solidarity and responsibility in the context of genetic testing, including a commitment to honoring the privacy and security of the person tested. Considering this global mandate and recent professional statements in the context of a legal amendment to patient privacy policies in Australia, a fresh scrutiny of the legal history of a physician's duty to warn is warranted. This article inquiries whether there may be anything ethically or socially amiss with a potential future recommendation for health professionals or patients to universally disclose particular cancer predisposition genetic diagnosis to genetic family members. While much of the discussion remains applicable to all genetic diagnosis, the article focuses on the practice of disclosure within the context of BRCA1/2 diagnosis. An 'ethic of care' interpretation of legal tradition and current practice will serve to reconcile law and medical policy on the issue of physician disclosure of genetic results to family members without patient consent. © 2015 John Wiley & Sons Ltd.

  11. Genetic Testing: MedlinePlus Health Topic

    Science.gov (United States)

    ... Your Family's Health (National Institutes of Health) - PDF Topic Image MedlinePlus Email Updates Get Genetic Testing updates ... testing and your cancer risk Karyotyping Related Health Topics Birth Defects Genetic Counseling Genetic Disorders Newborn Screening ...

  12. Genetic line comparisons and genetic parameters for endoparasite infections and test-day milk production traits.

    Science.gov (United States)

    May, Katharina; Brügemann, Kerstin; Yin, Tong; Scheper, Carsten; Strube, Christina; König, Sven

    2017-09-01

    Keeping dairy cows in grassland systems relies on detailed analyses of genetic resistance against endoparasite infections, including between- and within-breed genetic evaluations. The objectives of this study were (1) to compare different Black and White dairy cattle selection lines for endoparasite infections and (2) the estimation of genetic (co)variance components for endoparasite and test-day milk production traits within the Black and White cattle population. A total of 2,006 fecal samples were taken during 2 farm visits in summer and autumn 2015 from 1,166 cows kept in 17 small- and medium-scale organic and conventional German grassland farms. Fecal egg counts were determined for gastrointestinal nematodes (FEC-GIN) and flukes (FEC-FLU), and fecal larvae counts for the bovine lungworm Dictyocaulus viviparus (FLC-DV). The lowest values for gastrointestinal nematode infections were identified for genetic lines adopted to pasture-based production systems, especially selection lines from New Zealand. Heritabilities were low for FEC-GIN (0.05-0.06 ± 0.04) and FLC-DV (0.05 ± 0.04), but moderate for FEC-FLU (0.33 ± 0.06). Almost identical heritabilities were estimated for different endoparasite trait transformations (log-transformation, square root). The genetic correlation between FEC-GIN and FLC-DV was 1.00 ± 0.60, slightly negative between FEC-GIN and FEC-FLU (-0.10 ± 0.27), and close to zero between FLC-DV and FEC-FLU (0.03 ± 0.30). Random regression test-day models on a continuous time scale [days in milk (DIM)] were applied to estimate genetic relationships between endoparasite and longitudinal test-day production traits. Genetic correlations were negative between FEC-GIN and milk yield (MY) until DIM 85, and between FEC-FLU and MY until DIM 215. Genetic correlations between FLC-DV and MY were negative throughout lactation, indicating improved disease resistance for high-productivity cows. Genetic relationships between FEC-GIN and FEC-FLU with milk

  13. Fragmentation reduces regional-scale spatial genetic structure in a wind-pollinated tree because genetic barriers are removed.

    Science.gov (United States)

    Wang, Rong; Compton, Stephen G; Shi, Yi-Su; Chen, Xiao-Yong

    2012-09-01

    Gene flow strongly influences the regional genetic structuring of plant populations. Seed and pollen dispersal patterns can respond differently to the increased isolation resulting from habitat fragmentation, with unpredictable consequences for gene flow and population structuring. In a recently fragmented landscape we compared the pre- and post-fragmentation genetic structure of populations of a tree species where pollen and seed dispersal respond differentially to forest fragmentation generated by flooding. Castanopsis sclerophylla is wind-pollinated, with seeds that are dispersed by gravity and rodents. Using microsatellites, we found no significant difference in genetic diversity between pre- and post-fragmentation cohorts. Significant genetic structure was observed in pre-fragmentation cohorts, due to an unknown genetic barrier that had isolated one small population. Among post-fragmentation cohorts this genetic barrier had disappeared and genetic structure was significantly weakened. The strengths of genetic structuring were at a similar level in both cohorts, suggesting that overall gene flow of C. sclerophylla has been unchanged by fragmentation at the regional scale. Fragmentation has blocked seed dispersal among habitats, but this appears to have been compensated for by enhanced pollen dispersal, as indicated by the disappearance of a genetic barrier, probably as a result of increased wind speeds and easier pollen movement over water. Extensive pollen flow can counteract some negative effects of fragmentation and assist the long-term persistence of small remnant populations.

  14. How Sensitive Is Genetic Data?

    Science.gov (United States)

    Sariyar, Murat; Suhr, Stephanie; Schlünder, Irene

    2017-12-01

    The rising demand to use genetic data for research goes hand in hand with an increased awareness of privacy issues related to its use. Using human genetic data in a legally compliant way requires an examination of the legal basis as well as an assessment of potential disclosure risks. Focusing on the relevant legal framework in the European Union, we discuss open questions and uncertainties around the handling of genetic data in research, which can result in the introduction of unnecessary hurdles for data sharing. First, we discuss defining features and relative disclosure risks of some DNA-related biomarkers, distinguishing between the risk for disclosure of (1) the identity of an individual, (2) information about an individual's health and behavior, including previously unknown phenotypes, and (3) information about an individual's blood relatives. Second, we discuss the European legal framework applicable to the use of DNA-related biomarkers in research, the implications of including both inherited and acquired traits in the legal definition, as well as the issue of "genetic exceptionalism"-the notion that genetic information has inherent characteristics that require different considerations than other health and medical information. Finally, by mapping the legal to specific technical definitions, we draw some initial conclusions concerning how sensitive different types of "genetic data" may actually be. We argue that whole genome sequences may justifiably be considered "exceptional" and require special protection, whereas other genetic data that do not fulfill the same criteria should be treated in a similar manner to other clinical data. This kind of differentiation should be reflected by the law and/or other governance frameworks as well as agreed Codes of Conduct when using the term "genetic data."

  15. The genetic architecture of fitness in a seed beetle: assessing the potential for indirect genetic benefits of female choice

    Directory of Open Access Journals (Sweden)

    Maklakov AA

    2008-10-01

    Full Text Available Abstract Background Quantifying the amount of standing genetic variation in fitness represents an empirical challenge. Unfortunately, the shortage of detailed studies of the genetic architecture of fitness has hampered progress in several domains of evolutionary biology. One such area is the study of sexual selection. In particular, the evolution of adaptive female choice by indirect genetic benefits relies on the presence of genetic variation for fitness. Female choice by genetic benefits fall broadly into good genes (additive models and compatibility (non-additive models where the strength of selection is dictated by the genetic architecture of fitness. To characterize the genetic architecture of fitness, we employed a quantitative genetic design (the diallel cross in a population of the seed beetle Callosobruchus maculatus, which is known to exhibit post-copulatory female choice. From reciprocal crosses of inbred lines, we assayed egg production, egg-to-adult survival, and lifetime offspring production of the outbred F1 daughters (F1 productivity. Results We used the bio model to estimate six components of genetic and environmental variance in fitness. We found sizeable additive and non-additive genetic variance in F1 productivity, but lower genetic variance in egg-to-adult survival, which was strongly influenced by maternal and paternal effects. Conclusion Our results show that, in order to gain a relevant understanding of the genetic architecture of fitness, measures of offspring fitness should be inclusive and should include quantifications of offspring reproductive success. We note that our estimate of additive genetic variance in F1 productivity (CVA = 14% is sufficient to generate indirect selection on female choice. However, our results also show that the major determinant of offspring fitness is the genetic interaction between parental genomes, as indicated by large amounts of non-additive genetic variance (dominance and/or epistasis

  16. [Genetics of congenital heart diseases].

    Science.gov (United States)

    Bonnet, Damien

    2017-06-01

    Developmental genetics of congenital heart diseases has evolved from analysis of serial slices in embryos towards molecular genetics of cardiac morphogenesis with a dynamic view of cardiac development. Genetics of congenital heart diseases has also changed from formal genetic analysis of familial recurrences or population-based analysis to screening for mutations in candidates genes identified in animal models. Close cooperation between molecular embryologists, pathologists involved in heart development and pediatric cardiologists is crucial for further increase of knowledge in the field of cardiac morphogenesis and genetics of cardiac defects. The genetic model for congenital heart disease has to be revised to favor a polygenic origin rather than a monogenic one. The main mechanism is altered genic dosage that can account for heart diseases in chromosomal anomalies as well as in point mutations in syndromic and isolated congenital heart diseases. The use of big data grouping information from cardiac development, interactions between genes and proteins, epigenetic factors such as chromatin remodeling or DNA methylation is the current source for improving our knowledge in the field and to give clues for future therapies. Copyright © 2017 Elsevier Masson SAS. All rights reserved.

  17. Genetic basis of arrhythmogenic cardiomyopathy.

    Science.gov (United States)

    Karmouch, Jennifer; Protonotarios, Alexandros; Syrris, Petros

    2018-05-01

    To date 16 genes have been associated with arrhythmogenic cardiomyopathy (ACM). Mutations in these genes can lead to a broad spectrum of phenotypic expression ranging from disease affecting predominantly the right or left ventricle, to biventricular subtypes. Understanding the genetic causes of ACM is important in diagnosis and management of the disorder. This review summarizes recent advances in molecular genetics and discusses the application of next-generation sequencing technology in genetic testing in ACM. Use of next-generation sequencing methods has resulted in the identification of novel causative variants and genes for ACM. The involvement of filamin C in ACM demonstrates the genetic overlap between ACM and other types of cardiomyopathy. Putative pathogenic variants have been detected in cadherin 2 gene, a protein involved in cell adhesion. Large genomic rearrangements in desmosome genes have been systematically investigated in a cohort of ACM patients. Recent studies have identified novel causes of ACM providing new insights into the genetic spectrum of the disease and highlighting an overlapping phenotype between ACM and dilated cardiomyopathy. Next-generation sequencing is a useful tool for research and genetic diagnostic screening but interpretation of identified sequence variants requires caution and should be performed in specialized centres.

  18. Review of genetic concepts

    International Nuclear Information System (INIS)

    Robinson, A.

    1984-01-01

    In recent years, practitioners of medicine have become increasingly aware of the importance of genetics in the understanding of physical and mental health and in the management of disease. The last decades have witnessed unprecedented developments in genetics that have increased our understanding of the basic processes of heredity enormously. New techniques and understanding have provided insights directly applicable to medicine. The fundamental fact of heredity may be considered the ability of living organisms to produce offspring that resemble their parents more than others. One of the basic characteristics of the human condition is the uniqueness and diversity of all individuals. This results from their genetic individuality (with the exception of identical twins) and the interaction of the genetic constitution (the genome) with the environment, which is generally unique to the individual as well. In short, the interaction of genes with the environment is what confers biologic uniqueness to all humans

  19. Genetics for the ophthalmologist

    Directory of Open Access Journals (Sweden)

    Karthikeyan A Sadagopan

    2012-01-01

    Full Text Available The eye has played a major role in human genomics including gene therapy. It is the fourth most common organ system after integument (skin, hair and nails, nervous system, and musculoskeletal system to be involved in genetic disorders. The eye is involved in single gene disorders and those caused by multifactorial etiology. Retinoblastoma was the first human cancer gene to be cloned. Leber hereditary optic neuropathy was the first mitochondrial disorder described. X-Linked red-green color deficiency was the first X-linked disorder described. The eye, unlike any other body organ, allows directly visualization of genetic phenomena such as skewed X-inactivation in the fundus of a female carrier of ocular albinism. Basic concepts of genetics and their application to clinical ophthalmological practice are important not only in making a precise diagnosis and appropriate referral, but also in management and genetic counseling.

  20. Behavior genetics: Bees as model

    International Nuclear Information System (INIS)

    Nates Parra, Guiomar

    2011-01-01

    The honeybee Apis mellifera (Apidae) is a model widely used in behavior because of its elaborate social life requiring coordinate actions among the members of the society. Within a colony, division of labor, the performance of tasks by different individuals, follows genetically determined physiological changes that go along with aging. Modern advances in tools of molecular biology and genomics, as well as the sequentiation of A. mellifera genome, have enabled a better understanding of honeybee behavior, in particular social behavior. Numerous studies show that aspects of worker behavior are genetically determined, including defensive, hygienic, reproductive and foraging behavior. For example, genetic diversity is associated with specialization to collect water, nectar and pollen. Also, control of worker reproduction is associated with genetic differences. In this paper, I review the methods and the main results from the study of the genetic and genomic basis of some behaviors in bees.

  1. Recent advances in epilepsy genetics.

    Science.gov (United States)

    Orsini, Alessandro; Zara, Federico; Striano, Pasquale

    2018-02-22

    In last few years there has been rapid increase in the knowledge of epilepsy genetics. Nowadays, it is estimated that genetic epilepsies include over than 30% of all epilepsy syndromes. Several genetic tests are now available for diagnostic purposes in clinical practice. In particular, next-generation sequencing has proven to be effective in revealing gene mutations causing epilepsies in up to a third of the patients. This has lead also to functional studies that have given insight into disease pathophysiology and consequently to the identification of potential therapeutic targets opening the way of precision medicine for epilepsy patients. This minireview is focused on the most recent advances in genetics of epilepsies. We will also overview the modern genomic technologies and illustrate the diagnostic pathways in patients with genetic epilepsies. Finally, the potential implications for a personalized treatment (precision medicine) are also discussed. Copyright © 2017 Elsevier B.V. All rights reserved.

  2. Do species conservation assessments capture genetic diversity?

    Directory of Open Access Journals (Sweden)

    Malin C. Rivers

    2014-12-01

    Full Text Available The best known system for classifying threat status of species, the IUCN Red List, currently lacks explicit considerations of genetic diversity, and consequently may not account for potential adaptation of species to future environmental change. To address this gap, we integrate range-wide genetic analysis with IUCN Red List assessments.We calculated the loss of genetic diversity under simulated range loss for species of Delonix (Leguminosae. Simulated range loss involved random loss of populations and was intended to model ongoing habitat destruction. We found a strong relationship between loss of genetic diversity and range. Moreover, we found correspondence between levels of genetic diversity and thresholds for ‘non-threatened’ versus ‘threatened’ IUCN Red List categories.Our results support the view that current threat thresholds of the IUCN Red List criteria reflect genetic diversity, and hence evolutionary potential; although the genetic diversity distinction between threatened categories was less evident. Thus, by supplementing conventional conservation assessments with genetic data, new insights into the biological robustness of IUCN Red List assessments for targeted conservation initiatives can be achieved. Keywords: Conservation assessment, Conservation genetics, Extinction risk, Genetic diversity, IUCN Red List, Range

  3. Genetic sexing of the Mediterranean fruit fly

    International Nuclear Information System (INIS)

    1990-01-01

    In the early 1980s, it was recognized by the FAO and the IAEA that a genetic sexing method for the Mediterranean fruit fly (medfly) would greatly improve the efficacy of the medfly sterile insect technique (SIT) and reduce its costs. These Proceedings summarize the research and development findings of the Agency's co-operators in the co-ordinated research programme to develop a genetic sexing method for the medfly. Great progress has been made in many aspects of medfly genetics. including the development of a number of genetic sexing strains. Contents: Genetics, Cytogenetics and Population Genetics. Genetic Sexing of Ceratitis Capitata by Morphological, Biochemical and other means. Recommendations. Refs, figs and tabs

  4. Exploring Relationships among Belief in Genetic Determinism, Genetics Knowledge, and Social Factors

    Science.gov (United States)

    Gericke, Niklas; Carver, Rebecca; Castéra, Jérémy; Evangelista, Neima Alice Menezes; Marre, Claire Coiffard; El-Hani, Charbel N.

    2017-01-01

    Genetic determinism can be described as the attribution of the formation of traits to genes, where genes are ascribed more causal power than what scientific consensus suggests. Belief in genetic determinism is an educational problem because it contradicts scientific knowledge, and is a societal problem because it has the potential to foster…

  5. Somatically acquired structural genetic differences

    DEFF Research Database (Denmark)

    Magaard Koldby, Kristina; Nygaard, Marianne; Christensen, Kaare

    2016-01-01

    Structural genetic variants like copy number variants (CNVs) comprise a large part of human genetic variation and may be inherited as well as somatically acquired. Recent studies have reported the presence of somatically acquired structural variants in the human genome and it has been suggested t...... with age.European Journal of Human Genetics advance online publication, 20 April 2016; doi:10.1038/ejhg.2016.34....

  6. Recent advances in preimplantation genetic diagnosis

    Directory of Open Access Journals (Sweden)

    Kahraman S

    2015-04-01

    Full Text Available Semra Kahraman, Çağri Beyazyürek, Hüseyin Avni Taç, Caroline Pirkevi, Murat Cetinkaya, Neşe Gülüm IVF and Reproductive Genetics Center, Istanbul Memorial Hospital, Istanbul, Turkey Abstract: Preimplantation genetic diagnosis (PGD is an important method for the identification chromosomal abnormalities and genes responsible for genetic defects in embryos that are created through in vitro fertilization before pregnancy. As the list of conditions and indications for PGD testing is continuing to extend enormously, novel in vitro fertilization techniques and newly established genetic analysis techniques have been implemented in clinical settings in the recent years. Blastocyst-stage biopsy, vitrification techniques, time-lapse imaging, whole-genome amplification, array-based diagnostic techniques, and next-generation sequencing techniques are promising techniques for the accurate diagnosis of diverse genetic conditions and also for the selection of the best embryo that has the highest implantation capacity. The timing and technique used for biopsy, the amplification techniques, the genetic diagnosis techniques, and appropriate genetic counseling play important roles in establishing a successful PGD. In this review, those key points of PGD will be reviewed in detail. Keywords: preimplantation genetic diagnosis, array comparative genomic hybridization, single-nucleotide polymorphism arrays, next-generation sequencing, monogenic disorders, aneuploidy testing 

  7. Stroke genetics: prospects for personalized medicine

    Directory of Open Access Journals (Sweden)

    Markus Hugh S

    2012-09-01

    Full Text Available Abstract Epidemiologic evidence supports a genetic predisposition to stroke. Recent advances, primarily using the genome-wide association study approach, are transforming what we know about the genetics of multifactorial stroke, and are identifying novel stroke genes. The current findings are consistent with different stroke subtypes having different genetic architecture. These discoveries may identify novel pathways involved in stroke pathogenesis, and suggest new treatment approaches. However, the already identified genetic variants explain only a small proportion of overall stroke risk, and therefore are not currently useful in predicting risk for the individual patient. Such risk prediction may become a reality as identification of a greater number of stroke risk variants that explain the majority of genetic risk proceeds, and perhaps when information on rare variants, identified by whole-genome sequencing, is also incorporated into risk algorithms. Pharmacogenomics may offer the potential for earlier implementation of 'personalized genetic' medicine. Genetic variants affecting clopidogrel and warfarin metabolism may identify non-responders and reduce side-effects, but these approaches have not yet been widely adopted in clinical practice.

  8. Genetic effects from internally deposited radionuclides

    International Nuclear Information System (INIS)

    Anon.

    1987-01-01

    It was learned in the late 1920's that ionizing radiation could produce genetic effects such as gene mutations and chromosome aberrations. However, at least until 1945, the focus on interest in radiation protection was primarily on somatic effects manifested in the individual exposed. Studies of the genetic effects of radiation using drosophila, however, refocused attention on effects transmitted to the exposed individuals offspring and concern over fallout in the 1950's resulted in efforts to estimate the genetic effects from exposure of human populations to internally deposited radionuclides. No human populations have been identified with burdens of internally deposited radioactive materials which have been shown to produce evidence of transmissible genetic damage. As a result, the research approach has been one in which macromolecular, cellular, and whole animal genetic studies have been combined to estimate genetic effects on humans following the deposition of radioactive materials in the body. The purpose of this report is to update the information available from animal and cellular experiments that relates genetic effects to deposited activity and dose from internally deposited radioactive materials

  9. Genetic progress in multistage dairy cattle breeding schemes using genetic markers.

    Science.gov (United States)

    Schrooten, C; Bovenhuis, H; van Arendonk, J A M; Bijma, P

    2005-04-01

    The aim of this paper was to explore general characteristics of multistage breeding schemes and to evaluate multistage dairy cattle breeding schemes that use information on quantitative trait loci (QTL). Evaluation was either for additional genetic response or for reduction in number of progeny-tested bulls while maintaining the same response. The reduction in response in multistage breeding schemes relative to comparable single-stage breeding schemes (i.e., with the same overall selection intensity and the same amount of information in the final stage of selection) depended on the overall selection intensity, the selection intensity in the various stages of the breeding scheme, and the ratio of the accuracies of selection in the various stages of the breeding scheme. When overall selection intensity was constant, reduction in response increased with increasing selection intensity in the first stage. The decrease in response was highest in schemes with lower overall selection intensity. Reduction in response was limited in schemes with low to average emphasis on first-stage selection, especially if the accuracy of selection in the first stage was relatively high compared with the accuracy in the final stage. Closed nucleus breeding schemes in dairy cattle that use information on QTL were evaluated by deterministic simulation. In the base scheme, the selection index consisted of pedigree information and own performance (dams), or pedigree information and performance of 100 daughters (sires). In alternative breeding schemes, information on a QTL was accounted for by simulating an additional index trait. The fraction of the variance explained by the QTL determined the correlation between the additional index trait and the breeding goal trait. Response in progeny test schemes relative to a base breeding scheme without QTL information ranged from +4.5% (QTL explaining 5% of the additive genetic variance) to +21.2% (QTL explaining 50% of the additive genetic variance). A

  10. Advances in preimplantation genetic diagnosis/screening.

    Science.gov (United States)

    Yan, LiYing; Wei, Yuan; Huang, Jin; Zhu, XiaoHui; Shi, XiaoDan; Xia, Xi; Yan, Jie; Lu, CuiLing; Lian, Ying; Li, Rong; Liu, Ping; Qiao, Jie

    2014-07-01

    Preimplantation genetic diagnosis (PGD) gives couples who have a high risk of transmitting genetic disorders to their baby the chance to have a healthy offspring through embryo genetic analysis and selection. Preimplantation genetic screening (PGS) is an effective method to select euploid embryos that may prevent repeated implantation failure or miscarriage. However, how and to whom PGS should be provided is a controversial topic. The first successful case of PGD of a human being was reported in 1990, and there have been tremendous improvements in this technology since then. Both embryo biopsy and genetic technologies have been improved dramatically, which increase the accuracy and expand the indications of PGD/PGS.

  11. Exploring geovisualization symbology for landscape genetics

    DEFF Research Database (Denmark)

    Aoidh, Eoin Mac; Martinsohn, Jann Th.; Maes, Gregory E.

    2013-01-01

    or genetic expertise. While specialist applications exist, alternative accessible solutions do not provide adequate support for the visualization of multi‐attribute spatially referenced genetic population structure information. As a solution, we document our exploration for an appropriate symbology...... to communicate landscape genetic information through an accessible, web‐based interface. A full problem description, review of available technologies, development rationale, and discussion of the symbology exploration are provided.......Landscape genetics, which considers genetic population structure in the context of spatially referenced parameters in the surrounding landscape, has been shown to be extremely useful for wildlife management. Unfortunately its widespread uptake beyond the research community is hampered due to a lack...

  12. The Genetic Privacy Act and commentary

    Energy Technology Data Exchange (ETDEWEB)

    Annas, G.J.; Glantz, L.H.; Roche, P.A.

    1995-02-28

    The Genetic Privacy Act is a proposal for federal legislation. The Act is based on the premise that genetic information is different from other types of personal information in ways that require special protection. Therefore, to effectively protect genetic privacy unauthorized collection and analysis of individually identifiable DNA must be prohibited. As a result, the premise of the Act is that no stranger should have or control identifiable DNA samples or genetic information about an individual unless that individual specifically authorizes the collection of DNA samples for the purpose of genetic analysis, authorized the creation of that private information, and has access to and control over the dissemination of that information.

  13. Genetic risks and healthy choices: creating citizen-consumers of genetic services through empowerment and facilitation.

    Science.gov (United States)

    Harvey, Alison

    2010-03-01

    Genetic testing to identify susceptibility to a variety of common complex diseases is increasingly becoming available. In this article, focusing on the development of genetic susceptibility testing for diet-related disease, I examine the emergence of direct-to-the-consumer genetic testing services and the (re)configuration of healthcare provision, both within and outside the specialist genetics service, in the UK. I identify two key techniques within these practices: empowerment and facilitation. Using Foucauldian social theory, I show that empowerment and facilitation are being positioned as tools for the creation of citizen-consumers who will make appropriate dietary choices, based on the results of their genetic analysis. Through these techniques, individuals are transformed into properly entrepreneurial citizens who will, through judicious choices, act to maximise their 'vital capital' (their health) and the capital of the social body. I argue that the user of these services is not purely an economic figure, making rational choices as a consumer, but that her configuration as a citizen-consumer who avails herself of genetic information and services in a proper manner ensures that she is fit to contribute to the economic life of our present.

  14. Using the Genetics Concept Assessment to document persistent conceptual difficulties in undergraduate genetics courses.

    Science.gov (United States)

    Smith, Michelle K; Knight, Jennifer K

    2012-05-01

    To help genetics instructors become aware of fundamental concepts that are persistently difficult for students, we have analyzed the evolution of student responses to multiple-choice questions from the Genetics Concept Assessment. In total, we examined pretest (before instruction) and posttest (after instruction) responses from 751 students enrolled in six genetics courses for either majors or nonmajors. Students improved on all 25 questions after instruction, but to varying degrees. Notably, there was a subgroup of nine questions for which a single incorrect answer, called the most common incorrect answer, was chosen by >20% of students on the posttest. To explore response patterns to these nine questions, we tracked individual student answers before and after instruction and found that particular conceptual difficulties about genetics are both more likely to persist and more likely to distract students than other incorrect ideas. Here we present an analysis of the evolution of these incorrect ideas to encourage instructor awareness of these genetics concepts and provide advice on how to address common conceptual difficulties in the classroom.

  15. Genetic diversity among endangered rare Dalbergia cochinchinensis

    African Journals Online (AJOL)

    hocvan

    Experimental Taxonomy and Genetic Diversity, Vietnam National Museum of Nature, Vietnam Academy for Science and ... Genetic diversity of the 35 genotypes of D. cochinchinensis species were evaluated by ...... Dalbergia genus at the population level of genetic .... Population genetic software for teaching and research.

  16. Journal of Genetics | Indian Academy of Sciences

    Indian Academy of Sciences (India)

    Department of Molecular Genetics, Function and Therapy, The Cyprus Institute of Neurology and Genetics, 1683 Nicosia, Cyprus; Department of Pediatrics, Iasis Hospital, 8036 Paphos, Cyprus; Department of Clinical Genetics, The Cyprus Institute of Neurology and Genetics, 1683 Nicosia, Cyprus; Department of Pediatrics, ...

  17. Molecular genetic studies on obligate anaerobic bacteria

    International Nuclear Information System (INIS)

    Woods, D.R.

    1982-01-01

    Molecular genetic studies on obligate anaerobic bacteria have lagged behind similar studies in aerobes. However, the current interest in biotechnology, the involvement of anaerobes in disease and the emergence of antibioticresistant strains have focused attention on the genetics of anaerobes. This article reviews molecular genetic studies in Bacteroides spp., Clostridium spp. and methanogens. Certain genetic systems in some anaerobes differ from those in aerobes and illustrate the genetic diversity among bacteria

  18. KEYNOTE ADDRESS: CONSERVATION GENETICS OF FRESHWATER ORGANISMS

    OpenAIRE

    WEISS S.

    2005-01-01

    This manuscript serves as a summary of both the importance of genetics in conservation, and the range of methodological approaches available. Two somewhat distinct realms of conservation genetics are outlined. The first theoretically rests upon the field of population genetics, and primarily concerns itself with the conservation of genetic diversity within and among populations, both in the wild and captivity. Basic concepts such as heterozygosity, genetic drift, and effective population size...

  19. Dominance genetic and maternal effects for genetic evaluation of egg production traits in dual-purpose chickens.

    Science.gov (United States)

    Jasouri, M; Zamani, P; Alijani, S

    2017-10-01

    1. A study was conducted to study direct dominance genetic and maternal effects on genetic evaluation of production traits in dual-purpose chickens. The data set consisted of records of body weight and egg production of 49 749 Mazandaran fowls from 19 consecutive generations. Based on combinations of different random effects, including direct additive and dominance genetic and maternal additive genetic and environmental effects, 8 different models were compared. 2. Inclusion of a maternal genetic effect in the models noticeably improved goodness of fit for all traits. Direct dominance genetic effect did not have noticeable effects on goodness of fit but simultaneous inclusion of both direct dominance and maternal additive genetic effects improved fitting criteria and accuracies of genetic parameter estimates for hatching body weight and egg production traits. 3. Estimates of heritability (h 2 ) for body weights at hatch, 8 weeks and 12 weeks of age (BW0, BW8 and BW12, respectively), age at sexual maturity (ASM), average egg weights at 28-32 weeks of laying period (AEW), egg number (EN) and egg production intensity (EI) were 0.08, 0.21, 0.22, 0.22, 0.21, 0.09 and 0.10, respectively. For BW0, BW8, BW12, ASM, AEW, EN and EI, proportion of dominance genetic to total phenotypic variance (d 2 ) were 0.06, 0.08, 0.01, 0.06, 0.06, 0.08 and 0.07 and maternal heritability estimates (m 2 ) were 0.05, 0.04, 0.03, 0.13, 0.21, 0.07 and 0.03, respectively. Negligible coefficients of maternal environmental effect (c 2 ) from 0.01 to 0.08 were estimated for all traits, other than BW0, which had an estimate of 0.30. 4. Breeding values (BVs) estimated for body weights at early ages (BW0 and BW8) were considerably affected by components of the models, but almost similar BVs were estimated by different models for higher age body weight (BW12) and egg production traits (ASM, AEW, EN and EI). Generally, it could be concluded that inclusion of maternal effects (both genetic and

  20. Genetic educational needs and the role of genetics in primary care: a focus group study with multiple perspectives

    Directory of Open Access Journals (Sweden)

    van der Vleuten Cees

    2011-02-01

    Full Text Available Abstract Background Available evidence suggests that improvements in genetics education are needed to prepare primary care providers for the impact of ongoing rapid advances in genomics. Postgraduate (physician training and master (midwifery training programmes in primary care and public health are failing to meet these perceived educational needs. The aim of this study was to explore the role of genetics in primary care (i.e. family medicine and midwifery care and the need for education in this area as perceived by primary care providers, patient advocacy groups and clinical genetics professionals. Methods Forty-four participants took part in three types of focus groups: mono-disciplinary groups of general practitioners and midwives, respectively and multidisciplinary groups composed of a diverse set of experts. The focus group sessions were audio-taped, transcribed verbatim and analysed using content analysis. Recurrent themes were identified. Results Four themes emerged regarding the educational needs and the role of genetics in primary care: (1 genetics knowledge, (2 family history, (3 ethical dilemmas and psychosocial effects in relation to genetics and (4 insight into the organisation and role of clinical genetics services. These themes reflect a shift in the role of genetics in primary care with implications for education. Although all focus group participants acknowledged the importance of genetics education, general practitioners felt this need more urgently than midwives and more strongly emphasized their perceived knowledge deficiencies. Conclusion The responsibilities of primary care providers with regard to genetics require further study. The results of this study will help to develop effective genetics education strategies to improve primary care providers' competencies in this area. More research into the educational priorities in genetics is needed to design courses that are suitable for postgraduate and master programmes for

  1. Genetic parameters, phenotypic, genotypic and environmental correlations and genetic variability on sunflower in the Brazilian Savannah

    Directory of Open Access Journals (Sweden)

    Ellen Grippi Lira

    Full Text Available ABSTRACT: Sunflower (Helianthus annuus L. is an annual crop that stands out for its production of high quality oil and for an efficient selection, being necessary to estimate the components of genetic and phenotypic variance. This study aimed to estimate genetic parameters, phenotypic, genotypic and environmental correlations and genetic variability on sunflower in the Brazilian Savannah, evaluating the characters grain yield (YIELD, days to start flowering (DFL based on flowering date in R5, chapter length (CL, weight of a thousand achenes (WTA, plant height (H and oil content (OilC of 16 sunflower genotypes. The experiment was conducted at Embrapa Cerrados, Planaltina, DF, situated at 15º 35’ 30”S latitude, 47º 42’ 30”W longitude and 1.007m above sea level, in soil classified as dystroferric Oxisol. The experimental design used was a complete randomized block with four replicates. The nature for the effects of genotypes and blocks was fixed. Except for the character chapter length, genetic variance was the main component of the phenotypic variance among the genotypes, indicating high genetic variability and experimental efficiency with proper environmental control. In absolute terms, the genetic correlations were superior to phenotypic and environmental. The high values reported for heritability and selective accuracy indicated efficiency of phenotypic selection. Results showed high genetic variability among genotypes, which may contribute to the genetic improvement of sunflower.

  2. Genetics in the courts

    Energy Technology Data Exchange (ETDEWEB)

    Coyle, Heather; Drell, Dan

    2000-12-01

    Various: (1)TriState 2000 Genetics in the Courts (2) Growing impact of the new genetics on the courts (3)Human testing (4) Legal analysis - in re G.C. (5) Legal analysis - GM ''peanots'', and (6) Legal analysis for State vs Miller

  3. Genetic basis of atrial fibrillation

    Directory of Open Access Journals (Sweden)

    Oscar Campuzano

    2016-12-01

    Full Text Available Atrial fibrillation is the most common sustained arrhythmia and remains as one of main challenges in current clinical practice. The disease may be induced secondary to other diseases such as hypertension, valvular heart disease, and heart failure, conferring an increased risk of stroke and sudden death. Epidemiological studies have provided evidence that genetic factors play an important role and up to 30% of clinically diagnosed patients may have a family history of atrial fibrillation. To date, several rare variants have been identified in a wide range of genes associated with ionic channels, calcium handling protein, fibrosis, conduction and inflammation. Important advances in clinical, genetic and molecular basis have been performed over the last decade, improving diagnosis and treatment. However, the genetics of atrial fibrillation is complex and pathophysiological data remains still unraveling. A better understanding of the genetic basis will induce accurate risk stratification and personalized clinical treatment. In this review, we have focused on current genetics basis of atrial fibrillation.

  4. Genetic diversity in Trichomonas vaginalis.

    Science.gov (United States)

    Meade, John C; Carlton, Jane M

    2013-09-01

    Recent advances in genetic characterisation of Trichomonas vaginalis isolates show that the extensive clinical variability in trichomoniasis and its disease sequelae are matched by significant genetic diversity in the organism itself, suggesting a connection between the genetic identity of isolates and their clinical manifestations. Indeed, a high degree of genetic heterogeneity in T vaginalis isolates has been observed using multiple genotyping techniques. A unique two-type population structure that is both local and global in distribution has been identified, and there is evidence of recombination within each group, although sexual recombination between the groups appears to be constrained. There is conflicting evidence in these studies for correlations between T vaginalis genetic identity and clinical presentation, metronidazole susceptibility, and the presence of T vaginalis virus, underscoring the need for adoption of a common standard for genotyping the parasite. Moving forward, microsatellite genotyping and multilocus sequence typing are the most robust techniques for future investigations of T vaginalis genotype-phenotype associations.

  5. Frequently Asked Questions about Genetic and Genomic Science

    Science.gov (United States)

    ... Genetic and Genomic Science and Research FAQ About Clinical Research FAQ About Genetic Research FAQ About Genetic and Genomic Science See Also: Talking Glossary of Genetic Terms Definitions for the genetic terms used on this page ...

  6. Genetic risks from radiation

    International Nuclear Information System (INIS)

    Selby, P.B.

    Two widely-recognized committees, UNSCEAR and BEIR, have reevaluated their estimates of genetic risks from radiation. Their estimates for gene mutations are based on two different approaches, one being the doubling-dose approach and the other being a new direct approach based on an empirical determination of the amount of dominant induced damage in the skeletons of mice in the first generation following irradiation. The estimates made by these committees are in reasonably good agreement and suggest that the genetic risks from present exposures resultng from nuclear power production are small. There is room for much improvement in the reliability of the risk estimates. The relatively new approach of measuring the amount of induced damage to the mouse skeleton shows great promise of improving knowledge about how changes in the mutation frequency affect the incidence of genetic disorders. Such findings may have considerable influence on genetic risk estimates for radiation and on the development of risk estimates for other less-well-understood environmental mutagens. (author)

  7. Sex Determination, Sex Ratios, and Genetic Conflict

    NARCIS (Netherlands)

    Werren, John H.; Beukeboom, Leo W.

    1998-01-01

    Genetic mechanisms of sex determination are unexpectedly diverse and change rapidly during evolution. We review the role of genetic conflict as the driving force behind this diversity and turnover. Genetic conflict occurs when different components of a genetic system are subject to selection in

  8. Journal of Genetics | Indian Academy of Sciences

    Indian Academy of Sciences (India)

    Department of Clinical Genetics, The Cyprus Institute of Neurology and Genetics, Nicosia CY2370, Cyprus; Department of Molecular Genetics, Function and Therapy, The Cyprus Institute of Neurology and Genetics, Nicosia CY2370, Cyprus; Department of Electron Microscopy/Molecular Pathology, The Cyprus Institute of ...

  9. Graphical models for genetic analyses

    DEFF Research Database (Denmark)

    Lauritzen, Steffen Lilholt; Sheehan, Nuala A.

    2003-01-01

    This paper introduces graphical models as a natural environment in which to formulate and solve problems in genetics and related areas. Particular emphasis is given to the relationships among various local computation algorithms which have been developed within the hitherto mostly separate areas...... of graphical models and genetics. The potential of graphical models is explored and illustrated through a number of example applications where the genetic element is substantial or dominating....

  10. Strategies for MCMC computation in quantitative genetics

    DEFF Research Database (Denmark)

    Waagepetersen, Rasmus; Ibanez, Noelia; Sorensen, Daniel

    2006-01-01

    Given observations of a trait and a pedigree for a group of animals, the basic model in quantitative genetics is a linear mixed model with genetic random effects. The correlation matrix of the genetic random effects is determined by the pedigree and is typically very highdimensional but with a sp......Given observations of a trait and a pedigree for a group of animals, the basic model in quantitative genetics is a linear mixed model with genetic random effects. The correlation matrix of the genetic random effects is determined by the pedigree and is typically very highdimensional...

  11. Genetics of human hydrocephalus

    Science.gov (United States)

    Williams, Michael A.; Rigamonti, Daniele

    2006-01-01

    Human hydrocephalus is a common medical condition that is characterized by abnormalities in the flow or resorption of cerebrospinal fluid (CSF), resulting in ventricular dilatation. Human hydrocephalus can be classified into two clinical forms, congenital and acquired. Hydrocephalus is one of the complex and multifactorial neurological disorders. A growing body of evidence indicates that genetic factors play a major role in the pathogenesis of hydrocephalus. An understanding of the genetic components and mechanism of this complex disorder may offer us significant insights into the molecular etiology of impaired brain development and an accumulation of the cerebrospinal fluid in cerebral compartments during the pathogenesis of hydrocephalus. Genetic studies in animal models have started to open the way for understanding the underlying pathology of hydrocephalus. At least 43 mutants/loci linked to hereditary hydrocephalus have been identified in animal models and humans. Up to date, 9 genes associated with hydrocephalus have been identified in animal models. In contrast, only one such gene has been identified in humans. Most of known hydrocephalus gene products are the important cytokines, growth factors or related molecules in the cellular signal pathways during early brain development. The current molecular genetic evidence from animal models indicate that in the early development stage, impaired and abnormal brain development caused by abnormal cellular signaling and functioning, all these cellular and developmental events would eventually lead to the congenital hydrocephalus. Owing to our very primitive knowledge of the genetics and molecular pathogenesis of human hydrocephalus, it is difficult to evaluate whether data gained from animal models can be extrapolated to humans. Initiation of a large population genetics study in humans will certainly provide invaluable information about the molecular and cellular etiology and the developmental mechanisms of human

  12. Cotton genetic resources and crop vulnerability

    Science.gov (United States)

    A report on the genetic vulnerability of cotton was provided to the National Genetic Resources Advisory Council. The report discussed crop vulnerabilities associated with emerging diseases, emerging pests, and a narrowing genetic base. To address these crop vulnerabilities, the report discussed the ...

  13. Linear Mixed Models in Statistical Genetics

    NARCIS (Netherlands)

    R. de Vlaming (Ronald)

    2017-01-01

    markdownabstractOne of the goals of statistical genetics is to elucidate the genetic architecture of phenotypes (i.e., observable individual characteristics) that are affected by many genetic variants (e.g., single-nucleotide polymorphisms; SNPs). A particular aim is to identify specific SNPs that

  14. Genetics of allergy and bronchial hyperresponsiveness

    NARCIS (Netherlands)

    Howard, TD; Wiesch, DG; Koppelman, GH; Postma, DS; Meyers, DA; Bleecker, ER

    Allergy and asthma are closely related complex diseases caused by a combination of both genetic and environmental influences. Two common genetic approaches, candidate gene studies and genome-wide screens, have been used to localize and evaluate potential genetic factors that confer susceptibility or

  15. Young Adults' Belief in Genetic Determinism, and Knowledge and Attitudes towards Modern Genetics and Genomics: The PUGGS Questionnaire.

    Science.gov (United States)

    Carver, Rebecca Bruu; Castéra, Jérémy; Gericke, Niklas; Evangelista, Neima Alice Menezes; El-Hani, Charbel N

    2017-01-01

    In this paper we present the development and validation a comprehensive questionnaire to assess college students' knowledge about modern genetics and genomics, their belief in genetic determinism, and their attitudes towards applications of modern genetics and genomic-based technologies. Written in everyday language with minimal jargon, the Public Understanding and Attitudes towards Genetics and Genomics (PUGGS) questionnaire is intended for use in research on science education and public understanding of science, as a means to investigate relationships between knowledge, determinism and attitudes about modern genetics, which are to date little understood. We developed a set of core ideas and initial items from reviewing the scientific literature on genetics and previous studies on public and student knowledge and attitudes about genetics. Seventeen international experts from different fields (e.g., genetics, education, philosophy of science) reviewed the initial items and their feedback was used to revise the questionnaire. We validated the questionnaire in two pilot tests with samples of university freshmen students. The final questionnaire contains 45 items, including both multiple choice and Likert scale response formats. Cronbach alpha showed good reliability for each section of the questionnaire. In conclusion, the PUGGS questionnaire is a reliable tool for investigating public understanding and attitudes towards modern genetics and genomic-based technologies.

  16. Young Adults’ Belief in Genetic Determinism, and Knowledge and Attitudes towards Modern Genetics and Genomics: The PUGGS Questionnaire

    Science.gov (United States)

    Carver, Rebecca Bruu; Castéra, Jérémy; Gericke, Niklas; Evangelista, Neima Alice Menezes

    2017-01-01

    In this paper we present the development and validation a comprehensive questionnaire to assess college students’ knowledge about modern genetics and genomics, their belief in genetic determinism, and their attitudes towards applications of modern genetics and genomic-based technologies. Written in everyday language with minimal jargon, the Public Understanding and Attitudes towards Genetics and Genomics (PUGGS) questionnaire is intended for use in research on science education and public understanding of science, as a means to investigate relationships between knowledge, determinism and attitudes about modern genetics, which are to date little understood. We developed a set of core ideas and initial items from reviewing the scientific literature on genetics and previous studies on public and student knowledge and attitudes about genetics. Seventeen international experts from different fields (e.g., genetics, education, philosophy of science) reviewed the initial items and their feedback was used to revise the questionnaire. We validated the questionnaire in two pilot tests with samples of university freshmen students. The final questionnaire contains 45 items, including both multiple choice and Likert scale response formats. Cronbach alpha showed good reliability for each section of the questionnaire. In conclusion, the PUGGS questionnaire is a reliable tool for investigating public understanding and attitudes towards modern genetics and genomic-based technologies. PMID:28114357

  17. Genetic algorithms and fuzzy multiobjective optimization

    CERN Document Server

    Sakawa, Masatoshi

    2002-01-01

    Since the introduction of genetic algorithms in the 1970s, an enormous number of articles together with several significant monographs and books have been published on this methodology. As a result, genetic algorithms have made a major contribution to optimization, adaptation, and learning in a wide variety of unexpected fields. Over the years, many excellent books in genetic algorithm optimization have been published; however, they focus mainly on single-objective discrete or other hard optimization problems under certainty. There appears to be no book that is designed to present genetic algorithms for solving not only single-objective but also fuzzy and multiobjective optimization problems in a unified way. Genetic Algorithms And Fuzzy Multiobjective Optimization introduces the latest advances in the field of genetic algorithm optimization for 0-1 programming, integer programming, nonconvex programming, and job-shop scheduling problems under multiobjectiveness and fuzziness. In addition, the book treats a w...

  18. Genetics of cardiomyopathies in children

    Directory of Open Access Journals (Sweden)

    Matteo Vatta

    2011-08-01

    Full Text Available Cardiomyopathies are diseases of the heart muscle leading to heart failure and/or an increased risk of arrhythmogenic sudden cardiac death. These disorders represent a major cause of morbidity and mortality in children. In childhood forms of cardiomyopathy, genetic etiologies are frequent, but non-genetic or acquired causes, such viral infection, also play a significant role. In the last twenty years, the genetic causes of cardiomyopathies have been increasingly identified and clinical correlations are beginning to be defined. Here we present an overview of the recent advances in our understanding of the genetics of cardiomyopathies in children and what is known about the pathophysiological mechanisms underlying these gene-related forms of disease.

  19. Genetic parameters and genetic trends in the Chinese × European Tiameslan composite pig line. I. Genetic parameters

    Directory of Open Access Journals (Sweden)

    Legault Christian

    2000-01-01

    Full Text Available Abstract Genetic parameters of body weight at 4 (W4 w, 8 (W8 w and 22 (W22 w weeks of age, days from 20 to 100 kg (DT, average backfat thickness at 100 kg (ABT, teat number (TEAT, number of good teats (GTEAT, total number of piglets born (TNB, born alive (NBA and weaned (NW per litter, and birth to weaning survival rate (SURV were estimated in the Chinese × European Tiameslan composite line using restricted maximum likelihood methodology applied to a multiple trait animal model. Performance data from a total of 4 881 males and 4 799 females from 1 341 litters were analysed. Different models were fitted to the data in order to estimate the importance of maternal effects on production traits, as well as genetic correlations between male and female performance. The results showed the existence of significant maternal effects on W4w, W8w and ABT and of variance heterogeneity between sexes for W22w, DT, ABT and GTEAT. Genetic correlations between sexes were 0.79, 0.71 and 0.82, respectively, for W22w, DT and ABT and above 0.90 for the other traits. Heritability estimates were larger than (ABT and TEAT or similar to (other traits average literature values. Some genetic antagonism was evidenced between production traits, particularly W4w, W8w and ABT, and reproductive traits.

  20. Role of genetics in the etiopathogenesis of genetic generalized epilepsy: A review of current literature

    Directory of Open Access Journals (Sweden)

    S A Balarabe

    2016-01-01

    Full Text Available Until recently, genetic generalized epilepsy (GGE was believed to be of presumed genetic etiology with no identifiable genetic mutation or demonstrable epigenetic abnormality. A wide range of epileptic disorders has clue for an inherited susceptibility. Monogenic disorders associated with epilepsy mental retardation and structural brain lesion typified by heterotopias, tuberous sclerosis, and progressive myoclonus epilepsies account for about 1% of epilepsies. This review focuses on the role of genetic mutations and epigenetic rearrangements in the pathophysiologic mechanism of GGE. To achieve this; PubMed, EMBASE, and Google Scholar were systematically and comprehensively searched using keywords (“epilepsy” “juvenile myoclonic epilepsy (JME,” “typical absences,” “idiopathic generalized epilepsy,” “JME,” “juvenile absence epilepsy,” “childhood absence epilepsy” “generalized tonic-clonic seizure” “GTCS”. Most GGE has evidence of underlying genetic inheritance. Recent animal studies have shown that early detection and treatment of genetic generalized epilepsies can alter the phenotypic presentation in rodents. These findings suggest a critical period in epileptogenesis, during which spike-and-wave seizures can be suppressed, leading to chronic changes in the brain (epileptogenesis and the preceding dysfunctions may, therefore, be targeted using therapeutic approaches that may either delay or inhibit the transition to active epileptic attack. The interplay between genetic mutations and epigenetic rearrangements play important roles in the development of GCE and that this process, especially at crucial developmental periods, is very susceptible to environmental modulations.

  1. Assessment of Genetic Diversity and Population Genetic Structure of Corylus mandshurica in China Using SSR Markers.

    Science.gov (United States)

    Zong, Jian-Wei; Zhao, Tian-Tian; Ma, Qing-Hua; Liang, Li-Song; Wang, Gui-Xi

    2015-01-01

    Corylus mandshurica, also known as pilose hazelnut, is an economically and ecologically important species in China. In this study, ten polymorphic simple sequence repeat (SSR) markers were applied to evaluate the genetic diversity and population structure of 348 C. mandshurica individuals among 12 populations in China. The SSR markers expressed a relatively high level of genetic diversity (Na = 15.3, Ne = 5.6604, I = 1.8853, Ho = 0.6668, and He = 0.7777). According to the coefficient of genetic differentiation (Fst = 0.1215), genetic variation within the populations (87.85%) were remarkably higher than among populations (12.15%). The average gene flow (Nm = 1.8080) significantly impacts the genetic structure of C. mandshurica populations. The relatively high gene flow (Nm = 1.8080) among wild C. mandshurica may be caused by wind-pollinated flowers, highly nutritious seeds and self-incompatible mating system. The UPGMA (unweighted pair group method of arithmetic averages) dendrogram was divided into two main clusters. Moreover, the results of STRUCTURE analysis suggested that C. mandshurica populations fell into two main clusters. Comparison of the UPGMA dendrogram and the Bayesian STRUCTURE analysis showed general agreement between the population subdivisions and the genetic relationships among populations of C. mandshurica. Group I accessions were located in Northeast China, while Group II accessions were in North China. It is worth noting that a number of genetically similar populations were located in the same geographic region. The results further showed that there was obvious genetic differentiation among populations from Northeast China to North China. Results from the Mantel test showed a weak but still significant positive correlation between Nei's genetic distance and geographic distance (km) among populations (r = 0.419, P = 0.005), suggesting that genetic differentiation in the 12 C. mandshurica populations might be related to geographic distance. These

  2. Assessment of Genetic Diversity and Population Genetic Structure of Corylus mandshurica in China Using SSR Markers.

    Directory of Open Access Journals (Sweden)

    Jian-Wei Zong

    Full Text Available Corylus mandshurica, also known as pilose hazelnut, is an economically and ecologically important species in China. In this study, ten polymorphic simple sequence repeat (SSR markers were applied to evaluate the genetic diversity and population structure of 348 C. mandshurica individuals among 12 populations in China. The SSR markers expressed a relatively high level of genetic diversity (Na = 15.3, Ne = 5.6604, I = 1.8853, Ho = 0.6668, and He = 0.7777. According to the coefficient of genetic differentiation (Fst = 0.1215, genetic variation within the populations (87.85% were remarkably higher than among populations (12.15%. The average gene flow (Nm = 1.8080 significantly impacts the genetic structure of C. mandshurica populations. The relatively high gene flow (Nm = 1.8080 among wild C. mandshurica may be caused by wind-pollinated flowers, highly nutritious seeds and self-incompatible mating system. The UPGMA (unweighted pair group method of arithmetic averages dendrogram was divided into two main clusters. Moreover, the results of STRUCTURE analysis suggested that C. mandshurica populations fell into two main clusters. Comparison of the UPGMA dendrogram and the Bayesian STRUCTURE analysis showed general agreement between the population subdivisions and the genetic relationships among populations of C. mandshurica. Group I accessions were located in Northeast China, while Group II accessions were in North China. It is worth noting that a number of genetically similar populations were located in the same geographic region. The results further showed that there was obvious genetic differentiation among populations from Northeast China to North China. Results from the Mantel test showed a weak but still significant positive correlation between Nei's genetic distance and geographic distance (km among populations (r = 0.419, P = 0.005, suggesting that genetic differentiation in the 12 C. mandshurica populations might be related to geographic

  3. Grandmothers as gems of genetic wisdom: exploring South African traditional beliefs about the causes of childhood genetic disorders.

    Science.gov (United States)

    Penn, Claire; Watermeyer, Jennifer; MacDonald, Carol; Moabelo, Colleen

    2010-02-01

    With its diverse cultural and linguistic profile, South Africa provides a unique context to explore contextual influences on the process of genetic counseling. Prior research suggests intergenerational differences regarding models of causation which influence treatment-seeking paths. This pilot study therefore aimed to explore South African traditional beliefs regarding common childhood genetic disorders. Three focus groups were conducted with fifteen grandmothers from different cultural backgrounds in an urban community. Questions pertained to the role of the grandmother, traditional beliefs regarding causes of genetic disorders, explanations of heredity, and prevention and management of genetic disorders. Results indicate a variety of cultural explanations for causes of childhood genetic disorders. These causes can be classified into categories related to lifestyle, behavior, social issues, culture, religion, genetic, and familial causes. Prevention and treatment issues are also highlighted. These findings have implications for genetic counseling practice, which needs to include a greater focus on cultural issues.

  4. Genetic Diversity and Spatial Genetic Structure of an Epiphytic Bromeliad in Costa Rican Montane Secondary Forest Patches

    NARCIS (Netherlands)

    Cascante-Marín, A.; Oostermeijer, G.; Wolf, J.; Fuchs, E.J.

    2014-01-01

    Information on genetic variation and its distribution in tropical plant populations relies mainly on studies of ground-rooted species, while genetic information of epiphytic plants is still limited. Particularly, the effect of forest successional condition on genetic diversity and structure of

  5. Genetic counselling in the beta-thalassaemias

    Directory of Open Access Journals (Sweden)

    Adonis S. Ioannides

    2013-03-01

    Full Text Available The beta-thalassaemias are very important genetic disorders of haemoglobin synthesis and are amongst the commonest monogenic disorders. In view of the severity of beta-thalassaemia major, a number of screening programmes have been developed aimed at reducing the number of individuals born with the condition. Genetic counsellingplays a vital role in this process supporting the successful implementation of screening and delineating available options to at risk individuals. This review assesses the contribution of genetic counsellingat each stage of this process in the context of new diagnostic techniques and therapeutic options and discusses some of the more challenging aspects such as genotype/ phenotype correlation and coinheritance of other genetic conditions or genetic modifiers.

  6. Genetics and epigenetics of obesity.

    Science.gov (United States)

    Herrera, Blanca M; Keildson, Sarah; Lindgren, Cecilia M

    2011-05-01

    Obesity results from interactions between environmental and genetic factors. Despite a relatively high heritability of common, non-syndromic obesity (40-70%), the search for genetic variants contributing to susceptibility has been a challenging task. Genome wide association (GWA) studies have dramatically changed the pace of detection of common genetic susceptibility variants. To date, more than 40 genetic variants have been associated with obesity and fat distribution. However, since these variants do not fully explain the heritability of obesity, other forms of variation, such as epigenetics marks, must be considered. Epigenetic marks, or "imprinting", affect gene expression without actually changing the DNA sequence. Failures in imprinting are known to cause extreme forms of obesity (e.g. Prader-Willi syndrome), but have also been convincingly associated with susceptibility to obesity. Furthermore, environmental exposures during critical developmental periods can affect the profile of epigenetic marks and result in obesity. We review the most recent evidence for genetic and epigenetic mechanisms involved in the susceptibility and development of obesity. Only a comprehensive understanding of the underlying genetic and epigenetic mechanisms, and the metabolic processes they govern, will allow us to manage, and eventually prevent, obesity. Copyright © 2011 Elsevier Ireland Ltd. All rights reserved.

  7. Microsatellite data analysis for population genetics

    Science.gov (United States)

    Theories and analytical tools of population genetics have been widely applied for addressing various questions in the fields of ecological genetics, conservation biology, and any context where the role of dispersal or gene flow is important. Underlying much of population genetics is the analysis of ...

  8. Genetic diversity in a crop metapopulation

    NARCIS (Netherlands)

    Heerwaarden, van J.; Eeuwijk, van F.A.; Ross-Ibarra, J.

    2010-01-01

    The need to protect crop genetic resources has sparked a growing interest in the genetic diversity maintained in traditional farming systems worldwide. Although traditional seed management has been proposed as an important determinant of genetic diversity and structure in crops, no models exist that

  9. The Analysis of Polyploid Genetic Data

    NARCIS (Netherlands)

    Meirmans, P.G.; Liu, S.; van Tienderen, P.H.

    2018-01-01

    Though polyploidy is an important aspect of the evolutionary genetics of both plants and animals, the development of population genetic theory of polyploids has seriously lagged behind that of diploids. This is unfortunate since the analysis of polyploid genetic data—and the interpretation of the

  10. Genetic Diversity and Spatial Genetic Structure of the Grassland Perennial Saxifraga granulata along Two River Systems.

    Directory of Open Access Journals (Sweden)

    Sascha van der Meer

    Full Text Available Due to changes in land use, the natural habitats of an increasing number of plant species have become more and more fragmented. In landscapes that consist of patches of suitable habitat, the frequency and extent of long-distance seed dispersal can be expected to be an important factor determining local genetic diversity and regional population structure of the remaining populations. In plant species that are restricted to riparian habitats, rivers can be expected to have a strong impact on the dynamics and spatial genetic structure of populations as they may enable long-distance seed dispersal and thus maintain gene flow between fragmented populations. In this study, we used polymorphic microsatellite markers to investigate the genetic diversity and the spatial genetic structure of 28 populations of Saxifraga granulata along two rivers in central Belgium. We hypothesized that rivers might be essential for gene flow among increasingly isolated populations of this species. Genetic diversity was high (HS = 0.68, which to a certain extent can be explained by the octoploid nature of S. granulata in the study area. Populations along the Dijle and Demer rivers were also highly differentiated (G"ST = 0.269 and 0.164 and DEST = 0.190 and 0.124, respectively and showed significant isolation-by-distance, indicating moderate levels of gene flow primarily between populations that are geographically close to each other. Along the river Demer population genetic diversity was higher upstream than downstream, suggesting that seed dispersal via the water was not the primary mode of dispersal. Overall, these results indicate that despite increasing fragmentation populations along both rivers were highly genetically diverse. The high ploidy level and longevity of S. granulata have most likely buffered negative effects of fragmentation on genetic diversity and the spatial genetic structure of populations in riparian grasslands.

  11. Different differences: The use of ‘genetic ancestry’ versus race in biomedical human genetic research

    Science.gov (United States)

    Fujimura, Joan H.; Rajagopalan, Ramya

    2011-01-01

    This article presents findings from our ethnographic research on biomedical scientists’ studies of human genetic variation and common complex disease. We examine the socio-material work involved in genome-wide association studies (GWAS) and discuss whether, how, and when notions of race and ethnicity are or are not used. We analyze how researchers produce simultaneously different kinds of populations and population differences. Although many geneticists use race in their analyses, we find some who have invented a statistical genetics method and associated software that they use specifically to avoid using categories of race in their genetics analysis. Their method allows them to operationalize their concept of ‘genetic ancestry’ without resorting to notions of race and ethnicity. We focus on the construction and implementation of the software’s algorithms, and discuss the consequences and implications of the software technology for debates and policies around the use of race in genetics research. We also demonstrate that the production and use of their method involves a dynamic and fluid assemblage of actors in various disciplines responding to disciplinary and sociopolitical contexts and concerns. This assemblage also includes particular discourses on human history and geography as they become entangled with research on genetic markers and disease. We introduce the concept of ‘genome geography’, to analyze how some researchers studying human genetic variation ‘locate’ stretches of DNA in different places and times. The concept of genetic ancestry and the practice of genome geography rely on old discourses, but they also incorporate new technologies, infrastructures, and political and scientific commitments. Some of these new technologies provide opportunities to change some of our institutional and cultural forms and frames around notions of difference and similarity. Neverthless, we also highlight the slipperiness of genome geography and the

  12. Population genetics of non-genetic traits: Evolutionary roles of stochasticity in gene expression

    KAUST Repository

    Mineta, Katsuhiko

    2015-05-01

    The role of stochasticity in evolutionary genetics has long been debated. To date, however, the potential roles of non-genetic traits in evolutionary processes have been largely neglected. In molecular biology, growing evidence suggests that stochasticity in gene expression (SGE) is common and that SGE has major impacts on phenotypes and fitness. Here, we provide a general overview of the potential effects of SGE on population genetic parameters, arguing that SGE can indeed have a profound effect on evolutionary processes. Our analyses suggest that SGE potentially alters the fate of mutations by influencing effective population size and fixation probability. In addition, a genetic control of SGE magnitude could evolve under certain conditions, if the fitness of the less-fit individual increases due to SGE and environmental fluctuation. Although empirical evidence for our arguments is yet to come, methodological developments for precisely measuring SGE in living organisms will further advance our understanding of SGE-driven evolution.

  13. Population genetics of non-genetic traits: Evolutionary roles of stochasticity in gene expression

    KAUST Repository

    Mineta, Katsuhiko; Matsumoto, Tomotaka; Osada, Naoki; Araki, Hitoshi

    2015-01-01

    The role of stochasticity in evolutionary genetics has long been debated. To date, however, the potential roles of non-genetic traits in evolutionary processes have been largely neglected. In molecular biology, growing evidence suggests that stochasticity in gene expression (SGE) is common and that SGE has major impacts on phenotypes and fitness. Here, we provide a general overview of the potential effects of SGE on population genetic parameters, arguing that SGE can indeed have a profound effect on evolutionary processes. Our analyses suggest that SGE potentially alters the fate of mutations by influencing effective population size and fixation probability. In addition, a genetic control of SGE magnitude could evolve under certain conditions, if the fitness of the less-fit individual increases due to SGE and environmental fluctuation. Although empirical evidence for our arguments is yet to come, methodological developments for precisely measuring SGE in living organisms will further advance our understanding of SGE-driven evolution.

  14. Quantum Genetics in terms of Quantum Reversible Automata and Quantum Computation of Genetic Codes and Reverse Transcription

    CERN Document Server

    Baianu,I C

    2004-01-01

    The concepts of quantum automata and quantum computation are studied in the context of quantum genetics and genetic networks with nonlinear dynamics. In previous publications (Baianu,1971a, b) the formal concept of quantum automaton and quantum computation, respectively, were introduced and their possible implications for genetic processes and metabolic activities in living cells and organisms were considered. This was followed by a report on quantum and abstract, symbolic computation based on the theory of categories, functors and natural transformations (Baianu,1971b; 1977; 1987; 2004; Baianu et al, 2004). The notions of topological semigroup, quantum automaton, or quantum computer, were then suggested with a view to their potential applications to the analogous simulation of biological systems, and especially genetic activities and nonlinear dynamics in genetic networks. Further, detailed studies of nonlinear dynamics in genetic networks were carried out in categories of n-valued, Lukasiewicz Logic Algebra...

  15. Genetic parameters and genetic trends in the Chinese × European Tiameslan composite pig line. II. Genetic trends

    Directory of Open Access Journals (Sweden)

    Legault Christian

    2000-01-01

    Full Text Available Abstract The Tiameslan line was created between 1983 and 1985 by mating Meishan × Jiaxing crossbred Chinese boars with sows from the Laconie composite male line. The Tiameslan line has been selected since then on an index combining average backfat thickness (ABT and days from 20 to 100 kg (DT. Direct and correlated responses to 11 years of selection were estimated using BLUP methodology applied to a multiple trait animal model. A total of 11 traits were considered, i.e.: ABT, DT, body weight at 4 (W4w, 8 (W8w and 22 (W22w weeks of age, teat number (TEAT, number of good teats (GTEAT, total number of piglets born (TNB, born alive (NBA and weaned (NW per litter, and birth to weaning survival rate (SURV. Performance data from a total of 4 881 males and 4 799 females from 1 341 litters were analysed. The models included both direct and maternal effects for ABT, W4w and W8w. Male and female performances were considered as different traits for W22w, DT and ABT. Genetic parameters estimated in another paper (Zhang et al., Genet. Sel. Evol. 32 (2000 41-56 were used to perform the analyses. Favourable phenotypic (ΔP and direct genetic trends (ΔGd were obtained for post-weaning growth traits and ABT. Trends for maternal effects were limited. Phenotypic and genetic trends were larger in females than in males for ABT (e.g. ΔGd = -0.48 vs. -0.38 mm/year, were larger in males for W22w (ΔGd = 0.90 vs. 0.58 kg/year and were similar in both sexes for DT (ΔGd = -0.54 vs. -0.55 day/year. Phenotypic and genetic trends were slightly favourable for W4w, W8w, TEAT and GTEAT and close to zero for reproductive traits.

  16. Problem solving with genetic algorithms and Splicer

    Science.gov (United States)

    Bayer, Steven E.; Wang, Lui

    1991-01-01

    Genetic algorithms are highly parallel, adaptive search procedures (i.e., problem-solving methods) loosely based on the processes of population genetics and Darwinian survival of the fittest. Genetic algorithms have proven useful in domains where other optimization techniques perform poorly. The main purpose of the paper is to discuss a NASA-sponsored software development project to develop a general-purpose tool for using genetic algorithms. The tool, called Splicer, can be used to solve a wide variety of optimization problems and is currently available from NASA and COSMIC. This discussion is preceded by an introduction to basic genetic algorithm concepts and a discussion of genetic algorithm applications.

  17. New perspectives on preimplantation genetic diagnosis and preimplantation genetic screening.

    Science.gov (United States)

    Chen, Chun-Kai; Yu, Hsing-Tse; Soong, Yung-Kuei; Lee, Chyi-Long

    2014-06-01

    Preimplantation genetic diagnosis is a procedure that involves the removal of one or more nuclei from oocytes (a polar body) or embryos (blastomeres or trophectoderm cells) in order to test for problems in genome sequence or chromosomes of the embryo prior to implantation. It provides new hope of having unaffected children, as well as avoiding the necessity of terminating an affected pregnancy for genetic parents who carry an affected gene or have balanced chromosomal status. Polymerase chain reaction-based molecular techniques are the methods used to detect gene defects with a known sequence and X-linked diseases. The indication for using this approach has expanded for couples who are prevented from having babies because they carry a serious genetic disorder to couples with conditions that are not immediately life threatening, such as cancer predisposition genes and Huntington disease. In addition, fluorescent in situ hybridization (FISH) has been widely applied for the detection of chromosome abnormalities. FISH allows the evaluation of many chromosomes at the same time, up to 15 chromosome pairs in a single cell. Preimplantation genetic screening, defined as a test that screens for aneuploidy, has been most commonly used in situations of advanced maternal age, a history of recurrent miscarriage, a history of repeated implantation failure, or a severe male factor. Unfortunately, randomized controlled trials have as yet shown no benefit with respect to preimplantation genetic screening using cleavage stage biopsy, which is probably attributable to the high levels of mosaicism at early cleavage stages and the limitations of FISH. Recently, two main types of array-based technology combined with whole genome amplification have been developed for use in preimplantation genetic diagnosis; these are comparative genomic hybridization and single nucleotide polymorphism-based arrays. Both allow the analysis of all chromosomes, and the latter also allows the haplotype of

  18. Genetic Issues in Mental Retardation, 1996-1997.

    Science.gov (United States)

    Genetic Issues in Mental Retardation, 1996

    1996-01-01

    This document consists of the first six issues of a newsletter, which discusses current knowledge about and concerns related to genetics and mental retardation. The second issue addresses the problem of genetic discrimination. The third issue considers genetic testing, screening, and counseling. The fourth issue addresses genetic privacy issues.…

  19. Personalized medicine and human genetic diversity.

    Science.gov (United States)

    Lu, Yi-Fan; Goldstein, David B; Angrist, Misha; Cavalleri, Gianpiero

    2014-07-24

    Human genetic diversity has long been studied both to understand how genetic variation influences risk of disease and infer aspects of human evolutionary history. In this article, we review historical and contemporary views of human genetic diversity, the rare and common mutations implicated in human disease susceptibility, and the relevance of genetic diversity to personalized medicine. First, we describe the development of thought about diversity through the 20th century and through more modern studies including genome-wide association studies (GWAS) and next-generation sequencing. We introduce several examples, such as sickle cell anemia and Tay-Sachs disease that are caused by rare mutations and are more frequent in certain geographical populations, and common treatment responses that are caused by common variants, such as hepatitis C infection. We conclude with comments about the continued relevance of human genetic diversity in medical genetics and personalized medicine more generally. Copyright © 2014 Cold Spring Harbor Laboratory Press; all rights reserved.

  20. NCI Dictionary of Genetics Terms

    Science.gov (United States)

    A dictionary of more than 150 genetics-related terms written for healthcare professionals. This resource was developed to support the comprehensive, evidence-based, peer-reviewed PDQ cancer genetics information summaries.

  1. Human genetics and sleep behavior.

    Science.gov (United States)

    Shi, Guangsen; Wu, David; Ptáček, Louis J; Fu, Ying-Hui

    2017-06-01

    Why we sleep remains one of the greatest mysteries in science. In the past few years, great advances have been made to better understand this phenomenon. Human genetics has contributed significantly to this movement, as many features of sleep have been found to be heritable. Discoveries about these genetic variations that affect human sleep will aid us in understanding the underlying mechanism of sleep. Here we summarize recent discoveries about the genetic variations affecting the timing of sleep, duration of sleep and EEG patterns. To conclude, we also discuss some of the sleep-related neurological disorders such as Autism Spectrum Disorder (ASD) and Alzheimer's Disease (AD) and the potential challenges and future directions of human genetics in sleep research. Copyright © 2017 Elsevier Ltd. All rights reserved.

  2. Global genetic diversity of Aedes aegypti.

    Science.gov (United States)

    Gloria-Soria, Andrea; Ayala, Diego; Bheecarry, Ambicadutt; Calderon-Arguedas, Olger; Chadee, Dave D; Chiappero, Marina; Coetzee, Maureen; Elahee, Khouaildi Bin; Fernandez-Salas, Ildefonso; Kamal, Hany A; Kamgang, Basile; Khater, Emad I M; Kramer, Laura D; Kramer, Vicki; Lopez-Solis, Alma; Lutomiah, Joel; Martins, Ademir; Micieli, Maria Victoria; Paupy, Christophe; Ponlawat, Alongkot; Rahola, Nil; Rasheed, Syed Basit; Richardson, Joshua B; Saleh, Amag A; Sanchez-Casas, Rosa Maria; Seixas, Gonçalo; Sousa, Carla A; Tabachnick, Walter J; Troyo, Adriana; Powell, Jeffrey R

    2016-11-01

    Mosquitoes, especially Aedes aegypti, are becoming important models for studying invasion biology. We characterized genetic variation at 12 microsatellite loci in 79 populations of Ae. aegypti from 30 countries in six continents, and used them to infer historical and modern patterns of invasion. Our results support the two subspecies Ae. aegypti formosus and Ae. aegypti aegypti as genetically distinct units. Ae. aegypti aegypti populations outside Africa are derived from ancestral African populations and are monophyletic. The two subspecies co-occur in both East Africa (Kenya) and West Africa (Senegal). In rural/forest settings (Rabai District of Kenya), the two subspecies remain genetically distinct, whereas in urban settings, they introgress freely. Populations outside Africa are highly genetically structured likely due to a combination of recent founder effects, discrete discontinuous habitats and low migration rates. Ancestral populations in sub-Saharan Africa are less genetically structured, as are the populations in Asia. Introduction of Ae. aegypti to the New World coinciding with trans-Atlantic shipping in the 16th to 18th centuries was followed by its introduction to Asia in the late 19th century from the New World or from now extinct populations in the Mediterranean Basin. Aedes mascarensis is a genetically distinct sister species to Ae. aegypti s.l. This study provides a reference database of genetic diversity that can be used to determine the likely origin of new introductions that occur regularly for this invasive species. The genetic uniqueness of many populations and regions has important implications for attempts to control Ae. aegypti, especially for the methods using genetic modification of populations. © 2016 John Wiley & Sons Ltd.

  3. Global Genetic Diversity of Aedes aegypti

    Science.gov (United States)

    Gloria-Soria, Andrea; Ayala, Diego; Bheecarry, Ambicadutt; Calderon-Arguedas, Olger; Chadee, Dave D.; Chiappero, Marina; Coetzee, Maureen; Elahee, Khouaildi bin; Fernandez-Salas, Ildefonso; Kamal, Hany A.; Kamgang, Basile; Khater, Emad I. M.; Kramer, Laura D.; Kramer, Vicki; Lopez-Solis, Alma; Lutomiah, Joel; Martins, Ademir; Micieli, Maria Victoria; Paupy, Christophe; Ponlawat, Alongkot; Rahola, Nil; Rasheed, Syed Basit; Richardson, Joshua B.; Saleh, Amag A.; Sanchez-Casas, Rosa Maria; Seixas, Gonçalo; Sousa, Carla A.; Tabachnick, Walter J.; Troyo, Adriana; Powell, Jeffrey R.

    2016-01-01

    Mosquitoes, especially Aedes aegypti, are becoming important models for studying invasion biology. We characterized genetic variation at 12 microsatellite loci in 79 populations of Ae. aegypti, from 30 countries in six continents and used them to infer historical and modern patterns of invasion. Our results support the two subspecies Ae. aegypti formosus and Ae. aegypti aegypti as genetically distinct units. Ae. aegypti aegypti populations outside Africa are derived from ancestral African populations and are monophyletic. The two subspecies co-occur in both East Africa (Kenya) and West Africa (Senegal). In rural/forest settings (Rabai District of Kenya) the two subspecies remain genetically distinct whereas in urban settings they introgress freely. Populations outside Africa are highly genetically structured likely due to a combination of recent founder effects, discrete discontinuous habitats, and low migration rates. Ancestral populations in sub-Saharan Africa are less genetically structured, as are the populations in Asia. Introduction of Ae. aegypti to the New World coinciding with trans-Atlantic shipping in the 16th to 18th Centuries was followed by its introduction to Asia in the late 19th Century from the New World or from now extinct populations in the Mediterranean Basin. Aedes mascarensis is a genetically distinct sister species to Ae. aegypti s.l.. This study provides a reference database of genetic diversity that can be used to determine the likely origin of new introductions that occur regularly for this invasive species. The genetic uniqueness of many populations and regions has important implications for attempts to control Ae. aegypti, especially for methods using genetic modification of populations. PMID:27671732

  4. Competences, education and support for new roles in cancer genetics services: outcomes from the cancer genetics pilot projects.

    Science.gov (United States)

    Bennett, Catherine; Burton, Hilary; Farndon, Peter

    2007-01-01

    In 2004 the Department of Health in collaboration with Macmillan Cancer Support set up service development projects to pilot the integration of genetics in mainstream medicine in the area of cancer genetics.In developing these services, new roles and responsibilities were devised that required supporting programmes of education and training. The NHS National Genetics Education and Development Centre has worked with the projects to draw together their experience in these aspects. New roles include the Cancer Family Nurse Specialist, in which a nurse working in a cancer setting was trained to identify and manage genetic or family history concerns, and the Genetic Risk Assessment Practitioner--a small team of practitioners working within a secondary care setting to deliver a standardised risk assessment pathway. Existing roles were also adapted for a different setting, in particular the use of genetic counsellors working in a community ethnic minority setting. These practitioners undertook a range of clinical activities that can be mapped directly to the 'UK National Workforce Competences for Genetics in Clinical Practice for Non-genetics Healthcare Staff' framework developed by Skills for Health and the NHS National Genetics Education and Development Centre (2007; draft competence framework). The main differences between the various roles were in the ordering of genetic tests and the provision of advice on invasive preventive options such as mastectomy. Those involved in service development also needed to develop competences in project management, business skills, audit and evaluation, working with users, general management (personnel, multi-agency work and marketing), educational supervision, IT, public and professional outreach, and research. Important resources to support the development of new roles and competences included pathways and guidelines, a formal statement of competences, a recognised syllabus, appropriate and timely courses, the availability of a

  5. Genetics

    DEFF Research Database (Denmark)

    Christensen, Kaare; McGue, Matt

    2016-01-01

    The sequenced genomes of individuals aged ≥80 years, who were highly educated, self-referred volunteers and with no self-reported chronic diseases were compared to young controls. In these data, healthy ageing is a distinct phenotype from exceptional longevity and genetic factors that protect...

  6. Attitudes and Practices Among Internists Concerning Genetic Testing

    Science.gov (United States)

    Chung, Wendy; Marder, Karen; Shanmugham, Anita; Chin, Lisa J.; Stark, Meredith; Leu, Cheng-Shiun; Appelbaum, Paul S.

    2012-01-01

    Many questions remain concerning whether, when, and how physicians order genetic tests, and what factors are involved in their decisions. We surveyed 220 internists from two academic medical centers about their utilization of genetic testing. Rates of genetic utilizations varied widely by disease. Respondents were most likely to have ordered tests for Factor V Leiden (16.8%), followed by Breast/Ovarian Cancer (15.0%). In the past 6 months, 65% had counseled patients on genetic issues, 44% had ordered genetic tests, 38.5% had referred patients to a genetic counselor or geneticist, and 27.5% had received ads from commercial labs for genetic testing. Only 4.5% had tried to hide or disguise genetic information, and genetic discrimination. Only 53.4% knew of a geneticist/genetic counselor to whom to refer patients. Most rated their knowledge as very/somewhat poor concerning genetics (73.7%) and guidelines for genetic testing (87.1%). Most felt needs for more training on when to order tests (79%), and how to counsel patients (82%), interpret results (77.3%), and maintain privacy (80.6%). Physicians were more likely to have ordered a genetic test if patients inquired about genetic testing (pgenetic counselor to whom to refer patients (pgenetic counselor in the past 6 months, had more comfort counseling patients about testing (pgenetics, larger practices (pgenetic discrimination (pgenetic test was associated with patients inquiring about testing, having referred patients to a geneticist/genetic counselor and knowing how to order tests., These data suggest that physicians recognize their knowledge deficits, and are interested in training. These findings have important implications for future medical practice, research, and education. PMID:22585186

  7. Genet-specific spawning patterns in Acropora palmata

    Science.gov (United States)

    Miller, M. W.; Williams, D. E.; Fisch, J.

    2016-12-01

    The broadcast spawning elkhorn coral, Acropora palmata, requires outcrossing among different genets for effective fertilization. Hence, a low density of genets in parts of its range emphasizes the need for precise synchrony among neighboring genets as sperm concentration dilutes rapidly in open-ocean conditions. We documented the genet-specific nightly occurrence of spawning of A. palmata over 8 yr in a depauperate population in the Florida Keys to better understand this potential reproductive hurdle. The observed population failed to spawn within the predicted monthly window (nights 2-6 after the full moon in August) in three of the 8 yr of observation; negligible spawning was observed in a fourth year. Moreover, genet-specific patterns are evident in that (1) certain genets have significantly greater odds of spawning overall and (2) certain genets predictably spawn on the earlier and others on the later lunar nights within the predicted window. Given the already low genet density in this population, this pattern implies a substantial degree of wasted reproductive effort and supports the hypothesis that depensatory factors are impairing recovery in this species.

  8. Charcot-Marie-Tooth disease: frequency of genetic subtypes and guidelines for genetic testing.

    LENUS (Irish Health Repository)

    Murphy, Sinead M

    2012-07-01

    Charcot-Marie-Tooth disease (CMT) is a clinically and genetically heterogeneous group of diseases with approximately 45 different causative genes described. The aims of this study were to determine the frequency of different genes in a large cohort of patients with CMT and devise guidelines for genetic testing in practice.

  9. Genetic testing for hearing impairment.

    Science.gov (United States)

    Topsakal, V; Van Camp, G; Van de Heyning, P

    2005-01-01

    For some patients, genetic testing can reveal the etiology of their hearing impairment, and can provide evidence for a medical diagnosis. However, a gap between fundamental genetic research on hereditary deafness and clinical otology emerges because of the steadily increasing number of discovered genes for hereditary hearing impairment (HHI) and the comparably low clinical differentiation of the HHIs. In an attempt to keep up with the scientific progress, this article enumerates the indications of genetic testing for HHI from a clinical point of view and describes the most frequently encountered HHIs in Belgium. Domains of recent scientific interest, molecular biological aspects, and some pitfalls with HHIs are highlighted. The overview comprises bilateral congenital hearing loss, late-onset progressive high frequency hearing loss, progressive bilateral cochleo-vestibular deficit, and progressive low frequency hearing loss. Also, several syndromal forms of HHI are summarized, and the availability of genetic tests mentioned. Finally, the requirements for successful linkage analysis, an important genetic research tool for localizing the potential genes of a trait on a chromosome, are briefly described.

  10. Evolution of Genetic Techniques: Past, Present, and Beyond

    Directory of Open Access Journals (Sweden)

    Asude Alpman Durmaz

    2015-01-01

    Full Text Available Genetics is the study of heredity, which means the study of genes and factors related to all aspects of genes. The scientific history of genetics began with the works of Gregor Mendel in the mid-19th century. Prior to Mendel, genetics was primarily theoretical whilst, after Mendel, the science of genetics was broadened to include experimental genetics. Developments in all fields of genetics and genetic technology in the first half of the 20th century provided a basis for the later developments. In the second half of the 20th century, the molecular background of genetics has become more understandable. Rapid technological advancements, followed by the completion of Human Genome Project, have contributed a great deal to the knowledge of genetic factors and their impact on human life and diseases. Currently, more than 1800 disease genes have been identified, more than 2000 genetic tests have become available, and in conjunction with this at least 350 biotechnology-based products have been released onto the market. Novel technologies, particularly next generation sequencing, have dramatically accelerated the pace of biological research, while at the same time increasing expectations. In this paper, a brief summary of genetic history with short explanations of most popular genetic techniques is given.

  11. Genetics Home Reference: Adams-Oliver syndrome

    Science.gov (United States)

    ... Hum Genet. 2014 Mar;22(3):374-8. doi: 10.1038/ejhg.2013.159. Epub 2013 Jul ... Genet. 2012 Aug 10;91(2):391-5. doi: 10.1016/j.ajhg.2012.07.005. Citation ... Genet. 2015 Sep 3;97(3):475-82. doi: 10.1016/j.ajhg.2015.07.015. Epub ...

  12. Identifying genetic relatives without compromising privacy.

    Science.gov (United States)

    He, Dan; Furlotte, Nicholas A; Hormozdiari, Farhad; Joo, Jong Wha J; Wadia, Akshay; Ostrovsky, Rafail; Sahai, Amit; Eskin, Eleazar

    2014-04-01

    The development of high-throughput genomic technologies has impacted many areas of genetic research. While many applications of these technologies focus on the discovery of genes involved in disease from population samples, applications of genomic technologies to an individual's genome or personal genomics have recently gained much interest. One such application is the identification of relatives from genetic data. In this application, genetic information from a set of individuals is collected in a database, and each pair of individuals is compared in order to identify genetic relatives. An inherent issue that arises in the identification of relatives is privacy. In this article, we propose a method for identifying genetic relatives without compromising privacy by taking advantage of novel cryptographic techniques customized for secure and private comparison of genetic information. We demonstrate the utility of these techniques by allowing a pair of individuals to discover whether or not they are related without compromising their genetic information or revealing it to a third party. The idea is that individuals only share enough special-purpose cryptographically protected information with each other to identify whether or not they are relatives, but not enough to expose any information about their genomes. We show in HapMap and 1000 Genomes data that our method can recover first- and second-order genetic relationships and, through simulations, show that our method can identify relationships as distant as third cousins while preserving privacy.

  13. Unravelling fears of genetic discrimination: an exploratory study of Dutch HCM families in an era of genetic non-discrimination acts.

    Science.gov (United States)

    Geelen, Els; Horstman, Klasien; Marcelis, Carlo L M; Doevendans, Pieter A; Van Hoyweghen, Ine

    2012-10-01

    Since the 1990s, many countries in Europe and the United States have enacted genetic non-discrimination legislation to prevent people from deferring genetic tests for fear that insurers or employers would discriminate against them based on that information. Although evidence for genetic discrimination exists, little is known about the origins and backgrounds of fears of discrimination and how it affects decisions for uptake of genetic testing. The aim of this article is to gain a better understanding of these fears and its possible impact on the uptake of testing by studying the case of hypertrophic cardiomyopathy (HCM). In a qualitative study, we followed six Dutch extended families involved in genetic testing for HCM for three-and-a-half years. Semi-structured interviews were conducted with 57 members of these families. Based on the narratives of the families, we suggest that fears of discrimination have to be situated in the broader social and life-course context of family and kin. We describe the processes in which families developed meaningful interpretations of genetic discrimination and how these interpretations affected family members' decisions to undergo genetic testing. Our findings show that fears of genetic discrimination do not so much stem from the opportunity of genetic testing but much more from earlier experiences of discrimination of diseased family members. These results help identify the possible limitations of genetic non-discrimination regulations and provide direction to clinicians supporting their clients as they confront issues of genetic testing and genetic discrimination.

  14. Genetic divergence of tomato subsamples

    Directory of Open Access Journals (Sweden)

    André Pugnal Mattedi

    2014-02-01

    Full Text Available Understanding the genetic variability of a species is crucial for the progress of a genetic breeding program and requires characterization and evaluation of germplasm. This study aimed to characterize and evaluate 101 tomato subsamples of the Salad group (fresh market and two commercial controls, one of the Salad group (cv. Fanny and another of the Santa Cruz group (cv. Santa Clara. Four experiments were conducted in a randomized block design with three replications and five plants per plot. The joint analysis of variance was performed and characteristics with significant complex interaction between control and experiment were excluded. Subsequently, the multicollinearity diagnostic test was carried out and characteristics that contributed to severe multicollinearity were excluded. The relative importance of each characteristics for genetic divergence was calculated by the Singh's method (Singh, 1981, and the less important ones were excluded according to Garcia (1998. Results showed large genetic divergence among the subsamples for morphological, agronomic and organoleptic characteristics, indicating potential for genetic improvement. The characteristics total soluble solids, mean number of good fruits per plant, endocarp thickness, mean mass of marketable fruit per plant, total acidity, mean number of unmarketable fruit per plant, internode diameter, internode length, main stem thickness and leaf width contributed little to the genetic divergence between the subsamples and may be excluded in future studies.

  15. Technical Update: Preimplantation Genetic Diagnosis and Screening.

    Science.gov (United States)

    Dahdouh, Elias M; Balayla, Jacques; Audibert, François; Wilson, R Douglas; Audibert, François; Brock, Jo-Ann; Campagnolo, Carla; Carroll, June; Chong, Karen; Gagnon, Alain; Johnson, Jo-Ann; MacDonald, William; Okun, Nanette; Pastuck, Melanie; Vallée-Pouliot, Karine

    2015-05-01

    To update and review the techniques and indications of preimplantation genetic diagnosis (PGD) and preimplantation genetic screening (PGS). Discussion about the genetic and technical aspects of preimplantation reproductive techniques, particularly those using new cytogenetic technologies and embryo-stage biopsy. Clinical outcomes of reproductive techniques following the use of PGD and PGS are included. This update does not discuss in detail the adverse outcomes that have been recorded in association with assisted reproductive technologies. Published literature was retrieved through searches of The Cochrane Library and Medline in April 2014 using appropriate controlled vocabulary (aneuploidy, blastocyst/physiology, genetic diseases, preimplantation diagnosis/methods, fertilization in vitro) and key words (e.g., preimplantation genetic diagnosis, preimplantation genetic screening, comprehensive chromosome screening, aCGH, SNP microarray, qPCR, and embryo selection). Results were restricted to systematic reviews, randomized controlled trials/controlled clinical trials, and observational studies published from 1990 to April 2014. There were no language restrictions. Searches were updated on a regular basis and incorporated in the update to January 2015. Additional publications were identified from the bibliographies of retrieved articles. Grey (unpublished) literature was identified through searching the websites of health technology assessment and health technology-related agencies, clinical practice guideline collections, clinical trial registries, and national and international medical specialty societies. The quality of evidence in this document was rated using the criteria described in the Report of the Canadian Task Force on Preventive Health Care. (Table 1) BENEFITS, HARMS, AND COSTS: This update will educate readers about new preimplantation genetic concepts, directions, and technologies. The major harms and costs identified are those of assisted reproductive

  16. Genetic technologies and ethics.

    Science.gov (United States)

    Ardekani, Ali M

    2009-01-01

    In the past decade, the human genome has been completely sequenced and the knowledge from it has begun to influence the fields of biological and social sciences in fundamental ways. Identification of about 25000 genes in the human genome is expected to create great benefits in diagnosis and treatment of diseases in the coming years. However, Genetic technologies have also created many interesting and difficult ethical issues which can affect the human societies now and in the future. Application of genetic technologies in the areas of stem cells, cloning, gene therapy, genetic manipulation, gene selection, sex selection and preimplantation diagnosis has created a great potential for the human race to influence and change human life on earth as we know it today. Therefore, it is important for leaders of societies in the modern world to pay attention to the advances in genetic technologies and prepare themselves and those institutions under their command to face the challenges which these new technologies induce in the areas of ethics, law and social policies.

  17. Genetic Causes of Rickets

    Science.gov (United States)

    Acar, Sezer; Demir, Korcan; Shi, Yufei

    2017-01-01

    Rickets is a metabolic bone disease that develops as a result of inadequate mineralization of growing bone due to disruption of calcium, phosphorus and/or vitamin D metabolism. Nutritional rickets remains a significant child health problem in developing countries. In addition, several rare genetic causes of rickets have also been described, which can be divided into two groups. The first group consists of genetic disorders of vitamin D biosynthesis and action, such as vitamin D-dependent rickets type 1A (VDDR1A), vitamin D-dependent rickets type 1B (VDDR1B), vitamin D-dependent rickets type 2A (VDDR2A), and vitamin D-dependent rickets type 2B (VDDR2B). The second group involves genetic disorders of excessive renal phosphate loss (hereditary hypophosphatemic rickets) due to impairment in renal tubular phosphate reabsorption as a result of FGF23-related or FGF23-independent causes. In this review, we focus on clinical, laboratory and genetic characteristics of various types of hereditary rickets as well as differential diagnosis and treatment approaches. PMID:29280738

  18. Genetics of healthy aging in Europe: the EU-integrated project GEHA (GEnetics of Healthy Aging)

    DEFF Research Database (Denmark)

    Franceschi, Claudio; Bezrukov, Vladyslav; Blanché, Hélène

    2007-01-01

    The aim of the 5-year European Union (EU)-Integrated Project GEnetics of Healthy Aging (GEHA), constituted by 25 partners (24 from Europe plus the Beijing Genomics Institute from China), is to identify genes involved in healthy aging and longevity, which allow individuals to survive to advanced old......DNA). The genetic analysis will be performed by 9 high-throughput platforms, within the framework of centralized databases for phenotypic, genetic, and mtDNA data. Additional advanced approaches (bioinformatics, advanced statistics, mathematical modeling, functional genomics and proteomics, molecular biology...... age in good cognitive and physical function and in the absence of major age-related diseases. To achieve this aim a coherent, tightly integrated program of research that unites demographers, geriatricians, geneticists, genetic epidemiologists, molecular biologists, bioinfomaticians, and statisticians...

  19. Developing genetic privacy legislation: the South Carolina experience.

    Science.gov (United States)

    Edwards, J G; Young, S R; Brooks, K A; Aiken, J H; Patterson, E D; Pritchett, S T

    1998-01-01

    The availability of presymptomatic and predisposition genetic testing has spawned the need for legislation prohibiting health insurance discrimination on the basis of genetic information. The federal effort, the Health Insurance Portability and Accountability Act (HIPAA) of 1996, falls short by protecting only those who access insurance through group plans. A committee of University of South Carolina professionals convened in 1996 to develop legislation in support of genetic privacy for the state of South Carolina. The legislation prevents health insurance companies from denying coverage or setting insurance rates on the basis of genetic information. It also protects the privacy of genetic information and prohibits performance of genetic tests without specific informed consent. In preparing the bill, genetic privacy laws from other states were reviewed, and a modified version of the Virginia law adopted. The South Carolina Committee for the Protection of Genetic Privacy version went a step further by including enforcement language and excluding Virginia's sunset clause. The definition of genetic information encompassed genetic test results, and importantly, includes family history of genetic disease. Our experience in navigating through the state legislature and working through opposition from the health insurance lobby is detailed herein.

  20. Genetics of blue-green algae

    International Nuclear Information System (INIS)

    Ladha, J.K.; Kumar, H.D.

    1978-01-01

    Mutagenesis and genetics of cyanophyceae are reviewed. Mutant isolation, ultraviolet inactivation, reactivation and production of mutants resistant or sensitive to ultraviolet light, control of gene expression, genetic transfer and mapping are discussed. (UK)